View transcript #00000002

Transcript name aquaporin 2 (collecting duct)
Gene name AQP2 (aquaporin 2)
Chromosome 12
Transcript - NCBI ID NM_000486.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000477.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

66 entries on 1 page. Showing entries 1 - 66.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/+ 1 c.3G>T r.(?) p.(?)
+?/+ 1 c.64C>G r.(?) p.(Leu22Val)
+?/+ 1 c.71T>C r.(?) p.(Val24Ala)
./. 1 c.83T>C r.(?) p.(Leu28Pro)
+?/+ 1 c.85G>A r.(?) p.(Gly29Ser)
+?/+ 3 c.127_128del r.(?) p.(Gln43Aspfs*63)
+?/+ 1 c.127_128del r.(?) p.(Gln43Aspfs*63)
+?/+ 1 c.170A>C r.(?) p.(Gln57Pro)
+?/+ 1 c.170A>C r.(?) p.(Gln57Pro)
+?/+ 1 c.190G>A r.(?) p.(Gly64Arg)
+?/+ 1 c.209C>A r.(?) p.(Ala70Asp)
+?/+ 1 c.211G>A r.(?) p.(Val71Met)
+?/+ 1 c.211G>A r.(?) p.(Val71Met)
+?/+ 1 c.211G>A r.(?) p.(Val71Met)
+?/+ 1 c.253C>T r.(?) p.(Arg85*)
+?/+ 1 c.253C>T r.(?) p.(Arg85*)
+?/+ 1 c.287G>A r.(?) p.(Gly96Glu)
+?/+ 1 c.298G>A r.(?) p.(Gly100Arg)
+?/+ 1 c.298G>A r.(?) p.(Gly100Arg)
+?/+ 1 c.298G>T r.(?) p.(Gly100*)
+?/+ 1 c.298G>T r.(?) p.(Gly100*)
+?/+ 1 c.298G>T r.(?) p.(Gly100*)
+?/+ 1 c.299G>T r.(?) p.(Gly100Val)
+?/+ 1 c.299G>T r.(?) p.(Gly100Val)
+?/+ 1 c.323C>T r.(?) p.(Thr108Met)
+?/+ 2 c.369del r.(?) p.(Asn123Lysfs*9)
+?/+ 2 c.374C>T r.(?) p.(Thr125Met)
+?/+ 2 c.374C>T r.(?) p.(Thr125Met)
+?/+ 1 c.377C>T r.(?) p.(Thr126Met)
+?/+ 2 c.410T>C r.(?) p.(Leu137Pro)
+?/+ 2 c.439G>A r.(?) p.(Ala147Thr)
+?/+ 2 c.450T>A r.(?) p.(Asp150Glu)
+?/+ 2 c.450T>A r.(?) p.(Asp150Glu)
-/- 2 c.501T>C r.(=) p.(=)
-?/- 2 c.501T>C r.(=) p.(=)
-/- 2 c.501T>C r.(=) p.(=)
-?/- 2 c.501T>C r.(=) p.(=)
+?/+ 2 c.502G>A r.(?) p.(Val168Met)
+?/+ 2 c.502G>A r.(?) p.(Val168Met)
+?/+ 2 c.523G>A r.(?) p.(Gly175Arg)
+?/+ 3 c.538G>A r.(?) p.(Gly180Ser)
+?/+ 3 c.543C>G r.(?) p.(Cys181Trp)
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys)
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys)
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys)
+?/+ 2 c.559C>T r.(?) p.(Arg187Cys)
+?/+ 3 c.559C>T r.(?) p.(Arg187Cys)
+?/+ 3 c.560G>A r.(?) p.(Arg187His)
+?/+ 1 c.568G>A r.(?) p.(Ala190Thr)
+?/+ 3 c.568G>A r.(?) p.(Ala190Thr)
+?/+ 3 c.587G>A r.(?) p.(Gly196Asp)
+?/+ 3 c.601C>T r.(?) p.(His201Tyr)
+?/+ i3 c.607-1G>A r.(spl?) p.(?)
+?/+ 4 c.631G>C r.(?) p.(Gly211Arg)
+?/+ 4 c.643G>T r.(?) p.(Gly215Cys)
+?/+ 4 c.646T>C r.(?) p.(Ser216Pro)
+?/+ 4 c.646T>C r.(?) p.(Ser216Pro)
+?/+ 4 c.647C>T r.(?) p.(Ser216Phe)
+?/+ 4 c.682A>G r.(?) p.(Lys228Glu)
+?/+ 4 c.721del r.(?) p.(Glu241Serfs*94)
+?/+ 4 c.761G>T r.(?) p.(Arg254Leu)
+?/+ 4 c.763_772del r.(?) p.(Gln255Serfs*77)
+?/+ 4 c.785C>T r.(?) p.(Pro262Leu)
+?/+ 4 c.785C>T r.(?) p.(Pro262Leu)
+?/+ 2 c.785C>T r.(?) p.(Pro262Leu)
+?/+ 4 c.812_*2del r.(?) p.(Ala271delins66aa)
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