Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.M272K

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
7 papers
NM_000054.7
p.M272K
c.815T>A
Surrounding Variants
4 papers
NM_000054.7
p.M272R
c.815T>G
5 papers
NM_000054.7
p.M272V
c.814A>G
1 paper
NM_000054.7
p.M272I
c.816G>A
1 paper
NM_000054.7
p.M272I
c.816G>C
1 paper
NM_000054.7
p.M272I
c.816G>T
2 papers
NM_000054.7
p.T273A
c.817A>G
14 papers
NM_000054.7
p.T273M
c.818C>T
1 paper
NM_000054.7
p.R271delFs
c.813delG
1 paper
NM_000054.7
p.L274V
c.820C>G
5 papers
NM_000054.7
p.L274P
c.821T>C
2 papers
NM_000054.7
p.V270A
c.809T>C
2 papers
NM_000054.7
p.V270G
c.809T>G
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