Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.Y128F

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
1 paper
NM_000054.7
p.Y128F
c.383A>T
Surrounding Variants
47 papers
NM_000054.7
p.Y128S
c.383A>C
1 paper
NM_000054.7
p.Y128*
c.384C>A
1 paper
NM_000054.7
p.Y128*
c.384C>G
1 paper
NM_000054.7
p.Y128N
c.382T>A
5 papers
NM_000054.7
p.Y128D
c.382T>G
2 papers
NM_000054.7
p.S127Y
c.380C>A
1 paper
NM_000054.7
p.S127C
c.380C>G
5 papers
NM_000054.7
p.S127F
c.380C>T
2 papers
NM_000054.7
p.Y128del1
c.382_383delTAC
1 paper
NM_000054.7
p.M129K
c.386T>A
1 paper
NM_000054.7
p.M129R
c.386T>G
1 paper
NM_000054.7
p.M129I
c.387G>A
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