View unique variants in gene AQP2

Information The variants shown are described using the NM_000486.5 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
+?/+ 1 1 c.3G>T r.(?) p.(?) g.49950833G>T p.(Met1Ile) Sahakitrungruang et al. (2008) AQP2_000016 - Variant found in mother and affected child. Not found in 100 control chromosomes. LOVD
+?/+ 1 1 c.64C>G r.(?) p.(Leu22Val) g.49950894C>G - Canfield et al. (1997) AQP2_000030 - 1 more item LOVD
+?/+ 1 1 c.71T>C r.(?) p.(Val24Ala) g.49950901T>C V24A Leduc-Nadeau et al. (2010) AQP2_000029 - Variant found in affected individual (II-6); not found in 5 siblings, her son, or her husband. Dr. Daniel Bichet
./. 1 1 c.83T>C r.(?) p.(Leu28Pro) g.49950913T>C - Shalev et al. (2004) AQP2_000009 - - LOVD
+?/+ 1 1 c.85G>A r.(?) p.(Gly29Ser) g.49950915G>A - Sahakitrungruang et al. (2008) AQP2_000017 - Variant found in father and affected child. Not found in 100 control chromosomes. LOVD
+?/+ 2 1, 3 c.127_128del r.(?) p.(Gln43Aspfs*63) g.49950957_49950958del 197, 198 delCA at codon 43, Gln43Aspfs*62 Tajima et al. (2003), Park et al. (2014) AQP2_000003 - Variant found in proband and father in heterozygous state., 1 more item LOVD
+?/+ 2 1 c.170A>C r.(?) p.(Gln57Pro) g.49951000A>C - Lin et al. (2002) AQP2_000042 - 2 more items Dr. Daniel Bichet
+?/+ 1 1 c.190G>A r.(?) p.(Gly64Arg) g.49951020G>A - van Lieburg et al. (1994);Deen et al. (1995) AQP2_000035 - Variant found in affected individual and her mother; father not tested. LOVD
+?/+ 1 1 c.209C>A r.(?) p.(Ala70Asp) g.49951039C>A - Cheong et al. (2005) AQP2_000013 - Variant found in father and affected child. LOVD
+?/+ 3 1 c.211G>A r.(?) p.(Val71Met) g.49951041G>A GTG-to-ATG in codon 71 Bichet et al. (2012) AQP2_000007 - Variant homozygous in affected son, heterozygous in both unaffected parents., 2 more items Dr. Daniel Bichet
+?/+ 2 1 c.253C>T r.(?) p.(Arg85*) g.49951083C>T - Bircan et al. (2008), Vargas-Poussou et al. (1997) AQP2_000002 - Variant identified in heterozygous state in both parents and proband was homozygous for the variant., 1 more item LOVD
+?/+ 1 1 c.287G>A r.(?) p.(Gly96Glu) g.49951117G>A - Rugpolmuang et al. (2014) AQP2_000018 - 1 more item LOVD
+?/+ 2 1 c.298G>A r.(?) p.(Gly100Arg) g.49951128G>A - Carroll et al. (2006), Tsutsumi et al. (2009) AQP2_000011 - Variant found in father and 2 affected children., 1 more item LOVD
+?/+ 3 1 c.298G>T r.(?) p.(Gly100*) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 5 affected individuals in 4 sibships and heterozygous in their parents., 2 more items LOVD
+?/+ 2 1 c.299G>T r.(?) p.(Gly100Val) g.49951129G>T - Lin et al. (2002) AQP2_000043 - 2 more items Dr. Daniel Bichet
+?/+ 1 1 c.323C>T r.(?) p.(Thr108Met) g.49951153C>T - Park et al. (2014) AQP2_000015 - Variant found in mother and affected child. LOVD
+?/+ 1 2 c.369del r.(?) p.(Asn123Lysfs*9) g.49954163del - van Lieburg et al. (1994);Deen et al. (1995) AQP2_000036 - Variant found in affected individual, 3-of-4 unaffected siblings, and in both parents. LOVD
+?/+ 2 2 c.374C>T r.(?) p.(Thr125Met) g.49954168C>T - Tsutsumi et al. (2009), Goji et al. (1998);Kuwahara (1998) AQP2_000023 - Variant found in mother and 2 affected children., 1 more item LOVD
+?/+ 1 1 c.377C>T r.(?) p.(Thr126Met) g.49954171C>T - Rugpolmuang et al. (2014) AQP2_000019 - 1 more item LOVD
+?/+ 1 2 c.410T>C r.(?) p.(Leu137Pro) g.49954204T>C - Duzenli et al. (2012) AQP2_000001 - Variant may cause severe disease as patient was the most severely affected among 15 patients. LOVD
+?/+ 1 2 c.439G>A r.(?) p.(Ala147Thr) g.49954233G>A GCC>ACC Pasel et al. (2000) AQP2_000008 - One of 8 families studied; only one with AQP2 mutation, the others had AVPR2 mutations. LOVD
+?/+ 2 2 c.450T>A r.(?) p.(Asp150Glu) g.49954244T>A D150E Iolascon et al. (2007), Guyon et al. (2009) AQP2_000024 - Variant found in father, paternal uncle, paternal grandfather, and all 3 affected children., 1 more item LOVD, Dr. Daniel Bichet
-/-, -?/- 4 2 c.501T>C r.(=) p.(=) g.49954295T>C TCT>TCC in codon 167, c.697C>G, S167S Boccalandro et al. (2004), Rocha et al. (1999), Liberatore et al. (2012), Guyon et al. (2009) AQP2_000006 - A previously described polymorphism., 3 more items LOVD, Dr. Daniel Bichet
+?/+ 2 2 c.502G>A r.(?) p.(Val168Met) g.49954296G>A - Boccalandro et al. (2004), Vargas-Poussou et al. (1997) AQP2_000005 - 1 more item LOVD
+?/+ 1 2 c.523G>A r.(?) p.(Gly175Arg) g.49954317G>A - Goji et al. (1998);Kuwahara (1998) AQP2_000037 - Variant found in both affected children and in their mother, not in father. LOVD
+?/+ 1 3 c.538G>A r.(?) p.(Gly180Ser) g.49954642G>A c.537G>A Carroll et al. (2006) AQP2_000012 - 1 more item LOVD
+?/+ 1 3 c.543C>G r.(?) p.(Cys181Trp) g.49954647C>G - Canfield et al. (1997) AQP2_000031 - 1 more item LOVD
+?/+ 5 3, 2 c.559C>T r.(?) p.(Arg187Cys) g.49954663C>T R187C Deen et al. (1994);Deen et al. (1995), van Lieburg et al. (1994);Deen et al. (1995), 2 more items AQP2_000028 - Variant found homozygous in affected individual and heterozygous in mother; father not tested., 4 more items LOVD, Dr. Daniel Bichet
+?/+ 1 3 c.560G>A r.(?) p.(Arg187His) g.49954664G>A - Cheong et al. (2005) AQP2_000014 - Variant found in mother and affected child. LOVD
+?/+ 2 1, 3 c.568G>A r.(?) p.(Ala190Thr) g.49954672G>A - Kuwahara (1998), de Mattia et al. (2004 AQP2_000032 - Variant found in affected child and his father, not in mother., 1 more item LOVD, Dr. Daniel Bichet
+?/+ 1 3 c.587G>A r.(?) p.(Gly196Asp) g.49954691G>A G196D Guyon et al. (2009) AQP2_000026 - Variant found in mother, maternal grandmother, and 3 affected children. Dr. Daniel Bichet
+?/+ 1 3 c.601C>T r.(?) p.(His201Tyr) g.49954705C>T - Liberatore et al. (2012) AQP2_000020 - Variant found in mother and affected child. LOVD
+?/+ 1 i3 c.607-1G>A r.(spl?) p.(?) g.49955398G>A 1502-1G>A in intron 3 of the terminal exon splicing junction Tajima et al. (2003) AQP2_000004 - Variant found in proband and mother in heterozygous state. LOVD
+?/+ 1 4 c.631G>C r.(?) p.(Gly211Arg) g.49955423G>C c.697C>G Liberatore et al. (2012) AQP2_000021 - Variant found in father and affected child. LOVD
+?/+ 1 4 c.643G>T r.(?) p.(Gly215Cys) g.49955435G>T - Iolascon et al. (2007) AQP2_000025 - 1 more item LOVD
+?/+ 2 4 c.646T>C r.(?) p.(Ser216Pro) g.49955438T>C - Vargas-Poussou et al. (1997), Deen et al. (1994);Deen et al. (1995) AQP2_000010 - Variant not detected in the father. Assume de novo mutation., 1 more item LOVD
+?/+ 1 4 c.647C>T r.(?) p.(Ser216Phe) g.49955439C>T - Moon et al. (2009) AQP2_000022 - 1 more item Mary Fujiwara
+?/+ 1 4 c.682A>G r.(?) p.(Lys228Glu) g.49955474A>G K228E Leduc-Nadeau et al. (2010) AQP2_000027 - Variant found in father and 2 affected sons. Dr. Daniel Bichet
+?/+ 1 4 c.721del r.(?) p.(Glu241Serfs*94) g.49955513del - Kuwahara et al. (2001);Ohzeki et al. (1984) AQP2_000038 - Variant found in 3 affected individuals; not found in unaffected mom. LOVD
+?/+ 1 4 c.761G>T r.(?) p.(Arg254Leu) g.49955553G>T - de Mattia et al. (2005) AQP2_000034 - 1 more item LOVD
+?/+ 1 4 c.763_772del r.(?) p.(Gln255Serfs*77) g.49955555_49955564del - Kuwahara et al. (2001) AQP2_000039 - Variant found in affected child but in neither of her parents. LOVD
+?/+ 3 2, 4 c.785C>T r.(?) p.(Pro262Leu) g.49955577C>T - Kuwahara (1998), de Mattia et al. (2004) AQP2_000033 - Variant found in affected child and his mother, not in father., 2 more items LOVD, Dr. Daniel Bichet
+?/+ 1 4 c.812_*2del r.(?) p.(Ala271delins66aa) g.49955604_49955610del - Kuwahara et al. (2001) AQP2_000040 - Variant found in affected individual; not in his parents or his brother. LOVD
Legend