Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.Q96K

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.Q96K
c.286C>A
Surrounding Variants
1 paper
NM_000054.7
p.Q96E
c.286C>G
1 paper
NM_000054.7
p.Q96*
c.286C>T
1 paper
NM_000054.7
p.Q96P
c.287A>C
1 paper
NM_000054.7
p.Q96R
c.287A>G
1 paper
NM_000054.7
p.Q96L
c.287A>T
1 paper
NM_000054.7
p.P95H
c.284C>A
1 paper
NM_000054.7
p.P95R
c.284C>G
8 papers
NM_000054.7
p.P95L
c.284C>T
2 papers
NM_000054.7
p.Q96H
c.288G>C
2 papers
NM_000054.7
p.Q96H
c.288G>T
1 paper
NM_000054.7
p.L97M
c.289C>A
1 paper
NM_000054.7
p.P95A
c.283C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."