Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.K268*

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.K268*
c.802A>T
Surrounding Variants
2 papers
NM_000054.7
p.K268E
c.802A>G
15 papers
NM_000054.7
p.K268_T269insFs
c.804_805insG
4 papers
NM_000054.7
p.K268R
c.803A>G
8 papers
NM_000054.7
p.K268delFs
c.804delG
1 paper
NM_000054.7
p.K268_T269del2
c.802_806del6
1 paper
NM_000054.7
p.A267V
c.800C>T
1 paper
NM_000054.7
p.T269A
c.805A>G
1 paper
NM_000054.7
p.A267T
c.799G>A
8 papers
NM_000054.7
p.V266A
c.797T>C
2 papers
NM_000054.7
p.V266L
c.796G>C
1 paper
NM_000054.7
p.V270fs
c.808_809fs
2 papers
NM_000054.7
p.V270A
c.809T>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."