Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.Y205F

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
4 papers
NM_000054.7
p.Y205F
c.614A>T
Surrounding Variants
37 papers
NM_000054.7
p.Y205C
c.614A>G
1 paper
NM_000054.7
p.Y205*
c.615T>A
3 papers
NM_000054.7
p.Y205H
c.613T>C
1 paper
NM_000054.7
p.Y205D
c.613T>G
1 paper
NM_000054.7
p.Y205*
c.615T>G
1 paper
NM_000054.7
p.Y205fs
c.613_614fs
1 paper
NM_000054.7
p.T204T
c.612C>A
1 paper
NM_000054.7
p.T204T
c.612C>T
2 papers
NM_000054.7
p.Y205delFs
c.614_615delAT
2 papers
NM_000054.7
p.V206L
c.616G>C
1 paper
NM_000054.7
p.V206_T207insG
c.616_620ins3
22 papers
NM_000054.7
p.T204N
c.611C>A
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