Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.C112S

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
6 papers
NM_000054.7
p.C112S
c.334T>A
Surrounding Variants
14 papers
NM_000054.7
p.C112R
c.334T>C
1 paper
NM_000054.7
p.C112G
c.334T>G
5 papers
NM_000054.7
p.C112Y
c.335G>A
1 paper
NM_000054.7
p.L111L
c.333G>A
6 papers
NM_000054.7
p.C112S
c.335G>C
2 papers
NM_000054.7
p.C112F
c.335G>T
1 paper
NM_000054.7
p.L111Q
c.332T>A
1 paper
NM_000054.7
p.C112*
c.336T>A
1 paper
NM_000054.7
p.L111P
c.332T>C
1 paper
NM_000054.7
p.L111R
c.332T>G
1 paper
NM_000054.7
p.C112W
c.336T>G
1 paper
NM_000054.7
p.L111M
c.331C>A
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