Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S241*

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.S241*
c.722C>G
Surrounding Variants
1 paper
NM_000054.7
p.S241*
c.722C>A
1 paper
NM_000054.7
p.R243delFs
c.727_728delAG
1 paper
NM_000054.7
p.S241T
c.721T>A
2 papers
NM_000054.7
p.E242K
c.724G>A
20 papers
NM_000054.7
p.E242*
c.724G>T
1 paper
NM_000054.7
p.E242A
c.725A>C
1 paper
NM_000054.7
p.G239delFs
c.717delG
1 paper
NM_000054.7
p.P238L
c.713C>T
4 papers
NM_000054.7
p.G246insFs
c.738dupG
2 papers
NM_000054.7
p.G246delFs
c.738delG
1 paper
NM_000054.7
p.G245fs
c.733_734fs
1 paper
NM_000054.7
p.G245A
c.734G>C
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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."