Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L111fs

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.L111fs
c.331_332fs
Surrounding Variants
1 paper
NM_000054.7
p.L111M
c.331C>A
1 paper
NM_000054.7
p.L111V
c.331C>G
2 papers
NM_000054.7
p.C112delFs
c.334_335delTG
3 papers
NM_000054.7
p.L111delFs
c.331_332delCT
1 paper
NM_000054.7
p.L111Q
c.332T>A
1 paper
NM_000054.7
p.L111P
c.332T>C
1 paper
NM_000054.7
p.L111R
c.332T>G
1 paper
NM_000054.7
p.A110G
c.329C>G
1 paper
NM_000054.7
p.A110V
c.329C>T
1 paper
NM_000054.7
p.L111L
c.333G>A
1 paper
NM_000054.7
p.A110T
c.328G>A
1 paper
NM_000054.7
p.A110P
c.328G>C
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