Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.C319Y

AVPR2

565 papers

RefSeq Summary

This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus...

Pfam Domains

7tm_1aa 54–325UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

arginine vasopressin receptor 2

HGNC Previous Symbols

DIR3; DIR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000054.7
p.C319Y
c.956G>A
Surrounding Variants
1 paper
NM_000054.7
p.C319*
c.957C>A
5 papers
NM_000054.7
p.C319R
c.955T>C
2 papers
NM_000054.7
p.S318T
c.953G>C
1 paper
NM_000054.7
p.T320T
c.960C>A
1 paper
NM_000054.7
p.T320T
c.960C>T
1 paper
NM_000054.7
p.N321fs
c.961_962fs
6 papers
NM_000054.7
p.N321D
c.961A>G
13 papers
NM_000054.7
p.N321Y
c.961A>T
15 papers
NM_000054.7
p.N317K
c.951C>A
15 papers
NM_000054.7
p.N317K
c.951C>G
6 papers
NM_000054.7
p.N317S
c.950A>G
1 paper
NM_000054.7
p.N321I
c.962A>T
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