Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R149C

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
2 papers
NM_000054.7
p.R149C
c.445C>T
Surrounding Variants
3 papers
NM_000054.7
p.Y148*
c.444C>A
3 papers
NM_000054.7
p.Y148*
c.444C>G
2 papers
NM_000054.7
p.R149H
c.446G>A
1 paper
NM_000054.7
p.Y148C
c.443A>G
1 paper
NM_000054.7
p.R149R
c.447C>G
2 papers
NM_000054.7
p.H150Y
c.448C>T
1 paper
NM_000054.7
p.Y148insFs
c.442_443insG
1 paper
NM_000054.7
p.A147A
c.441G>A
8 papers
NM_000054.7
p.A147V
c.440C>T
1 paper
NM_000054.7
p.H150Q
c.450T>A
2 papers
NM_000054.7
p.G151delFs
c.452delG
6 papers
NM_000054.7
p.A147T
c.439G>A
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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."