Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S334A

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.S334A
c.1000T>G
Surrounding Variants
1 paper
NM_000054.7
p.S334*
c.1001C>A
1 paper
NM_000054.7
p.S334*
c.1001C>G
2 papers
NM_000054.7
p.S334L
c.1001C>T
1 paper
NM_000054.7
p.S333C
c.998C>G
1 paper
NM_000054.7
p.S333F
c.998C>T
1 paper
NM_000054.7
p.E335K
c.1003G>A
1 paper
NM_000054.7
p.E335Q
c.1003G>C
2 papers
NM_000054.7
p.E335*
c.1003G>T
1 paper
NM_000054.7
p.S333A
c.997T>G
1 paper
NM_000054.7
p.S333insFs
c.999dupC
6 papers
NM_000054.7
p.S333del1
c.997_998delTCC
2 papers
NM_000054.7
p.V332E
c.995T>A
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