Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.I221T

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.I221T
c.662T>C
Surrounding Variants
1 paper
NM_000054.7
p.A222T
c.664G>A
1 paper
NM_000054.7
p.G220R
c.658G>C
1 paper
NM_000054.7
p.A223T
c.667G>A
9 papers
NM_000054.7
p.L219P
c.656T>C
8 papers
NM_000054.7
p.L219R
c.656T>G
2 papers
NM_000054.7
p.L219delFs
c.656delT
1 paper
NM_000054.7
p.C224*
c.672C>A
12 papers
NM_000054.7
p.Q225*
c.673C>T
3 papers
NM_000054.7
p.Q225R
c.674A>G
2 papers
NM_000054.7
p.P217R
c.650C>G
1 paper
NM_000054.7
p.P217L
c.650C>T
4 papers
NM_000054.7
p.P217T
c.649C>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."