View transcript #00000001

Transcript name arginine vasopressin
Gene name AVP (arginine vasopressin)
Chromosome 20
Transcript - NCBI ID NM_000490.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000481.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

145 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     
+?/+ 1 c.-33_4del c.1-33_C4del37nt r.(?) p.(?)
+?/+ 5' UTR c.-3A>C - r.(?) p.(?)
+?/+ 2 c.151_(c.495+10051)del 10,396 bp deletion; Arg51fs r.(?) p.(?)
./. 1 c.= - r.(=) p.(=)
./. 1 c.= - r.(=) p.(=)
+?/+ 1 c.1A>G - r.? p.?
+?/+ 2 c.292T>G - r.(?) p.(Cys98Gly)
+?/+ 1 c.2del - r.? p.?
+?/+ 2 c.295G>C - r.(?) p.(Ala99Pro)
+?/+ 1 c.3delG - r.? p.?
+?/+ 1 c.3G>A - r.? p.?
./. 1 c.50C>A - r.(?) p.(Ser17Tyr)
+?/+ 1 c.50C>T - r.(?) p.(Ser17Phe)
+?/+ 1 c.52_54del - r.(?) p.(Ser18del)
+?/+ 1 c.52_54del - r.(?) p.(Ser18del)
+?/+ 1 c.52_54del - r.(?) p.(Ser18del)
+?/+ 2 c.275G>A - r.(?) p.(Cys92Tyr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 2 c.175T>C - r.(?) p.(Cys59Arg)
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val)
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val)
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val)
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val)
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val)
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val)
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val)
+?/+ 1 c.61T>C - r.(?) p.(Tyr21His)
+?/+ 1 c.61T>C - r.(?) p.(Tyr21His)
+?/+ 1 c.62A>C - r.(?) p.(Tyr21Ser)
+?/+ 1 c.64_66del - r.(?) p.(Phe22del)
+?/+ 1 c.77C>T - r.(?) p.(Pro26Leu)
+?/+ 1 c.77C>T c.301C>T r.(?) p.(Pro26Leu)
+?/+ 1 c.77C>T - r.(?) p.(Pro26Leu)
+?/+ 1 c.77C>T - r.(?) p.(Pro26Leu)
+?/+ i1 c.121-2A>G IVS1-2A>G r.spl? p.?
+?/+ i1 c.121-2A>G IVS1-2A>G r.spl? p.?
+?/+ i1 c.121-2A>G IVS1-2A>G r.spl? p.?
+?/+ i1 c.121-2A>G IVS1-2A>G r.spl? p.?
+?/+ 2 c.123C>G - r.(?) p.(Cys41Trp)
+?/+ 2 c.127C>G - r.(?) p.(Pro43Ala)
+?/+ 2 c.132C>G - r.(?) p.(Cys44Trp)
+?/+ 2 c.133G>C - r.(?) p.(Gly45Arg)
+?/+ 2 c.133G>T - r.(?) p.(Gly45Cys)
+?/+ 2 c.143G>T - r.(?) p.(Gly48Val)
+?/+ 2 c.143G>T - r.(?) p.(Gly48Val)
+?/+ 2 c.143G>T - r.(?) p.(Gly48Val)
+?/+ 2 c.151C>T - r.(?) p.(Arg51Cys)
+?/+ 2 c.160G>A - r.(?) p.(Gly54Arg)
+?/+ 2 c.160G>C - r.(?) p.(Gly54Arg)
+?/+ 2 c.160G>C - r.(?) p.(Gly54Arg)
+?/+ 1 c.56C>T - r.(?) p.(Ala19Val)
+?/+ 2 c.161G>A - r.(?) p.(Gly54Glu)
+?/+ 2 c.161G>T - r.(?) p.(Gly54Val)
+?/+ 2 c.164C>A - r.(?) p.(Pro55His)
+?/+ 2 c.164C>T - r.(?) p.(Pro55Leu)
+?/+ 2 c.173G>T - r.(?) p.(Cys58Phe)
+?/+ 2 c.173G>T - r.(?) p.(Cys58Phe)
+?/+ 2 c.176G>A - r.(?) p.(Cys59Tyr)
+?/+ 2 c.188T>C - r.(?) p.(Leu63Pro)
+?/+ 2 c.192_193delinsAA c.[192C>A;193T>A] r.(?) p.(Cys65Ser)
+?/+ 2 c.177_179del p.(Cys59del;Ala60Trp) r.(?) p.(Cys59_Ala60delinsTrp)
+?/+ 2 c.200T>C - r.(?) p.(Val67Ala)
+?/+ 2 c.207_209del - r.(?) p.(Ala70del)
./. 2 c.225C>G - r.(?) p.(Cys75Trp)
+?/+ 2 c.232G>A - r.(?) p.(Glu78Lys)
+?/+ 2 c.232G>A - r.(?) p.(Glu78Lys)
+?/+ 2 c.232_234del - r.(?) p.(Glu78del)
+?/+ 2 c.232_234del - r.(?) p.(Glu78del)
+?/+ 2 c.232_234del - r.(?) p.(Glu78del)
+?/+ 2 c.232_234del - r.(?) p.(Glu78del)
+?/+ 2 c.232_234del - r.(?) p.(Glu78del)
+?/+ 2 c.232_234del - r.(?) p.(Glu78del)
+?/+ 2 c.232_234del - r.(?) p.(Glu78del)
+?/+ 2 c.232_234del - r.(?) p.(Glu78del)
+?/+ 2 c.232_234del - r.(?) p.(Glu78del)
+?/+ 2 c.290G>C - r.(?) p.(Arg97Pro)
+?/+ 1 c.55G>A - r.(?) p.(Ala19Thr)
+?/+ 1 c.77C>T - r.(?) p.(Pro26Leu)
+?/+ 2 c.233A>G - r.(?) p.(Glu78Gly)
+?/+ 2 c.233A>G - r.(?) p.(Glu78Gly)
+?/+ 2 c.262G>A - r.(?) p.(Gly88Ser)
+?/+ 2 c.242T>C - r.(?) p.(Leu81Pro)
+?/+ 2 c.251C>T - r.(?) p.(Pro84Leu)
+?/+ 2 c.262G>A - r.(?) p.(Gly88Ser)
+?/+ 2 c.262G>A - r.(?) p.(Gly88Ser)
+?/+ 2 c.262G>C - r.(?) p.(Gly88Arg)
+?/+ 2 c.263G>T - r.(?) p.(Gly88Val)
+?/+ 2 c.263G>T Codon 88: GGC>GTC r.(?) p.(Gly88Val)
+?/+ 2 c.263G>T - r.(?) p.(Gly88Val)
+?/+ 2 c.275G>A - r.(?) p.(Cys92Tyr)
+?/+ 2 c.275G>C - r.(?) p.(Cys92Ser)
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