Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.K100T

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.K100T
c.299A>C
Surrounding Variants
2 papers
NM_000054.7
p.K100R
c.299A>G
2 papers
NM_000054.7
p.K100M
c.299A>T
1 paper
NM_000054.7
p.K100Q
c.298A>C
1 paper
NM_000054.7
p.K100E
c.298A>G
1 paper
NM_000054.7
p.K100_A101insFs
c.300_301insA
5 papers
NM_000054.7
p.W99*
c.297G>A
1 paper
NM_000054.7
p.A101T
c.301G>A
1 paper
NM_000054.7
p.W99C
c.297G>C
1 paper
NM_000054.7
p.A101P
c.301G>C
2 papers
NM_000054.7
p.K100insFs
c.299_300insA
1 paper
NM_000054.7
p.W99C
c.297G>T
1 paper
NM_000054.7
p.A101S
c.301G>T
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