Varaico: Literature-Extracted Genetic Variants

Gene:AVPR1A
Variant:p.E54A

AVPR1A

100 papers

RefSeq Summary

The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its acti...

Pfam Domains

7tm_1aa 68–348UCSC7 transmembrane receptor (rhodopsin family)
V1R_Caa 372–418UCSCVasopressin V1 receptor, C-terminal

Gene Aliases

HGNC Name

arginine vasopressin receptor 1A

HGNC Previous Symbol

AVPR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000706.5
p.E54A
c.161A>C
Surrounding Variants
1 paper
NM_000706.5
p.E54G
c.161A>G
1 paper
NM_000706.5
p.E54D
c.162G>T
1 paper
NM_000706.5
p.E54D
c.162G>C
1 paper
NM_000706.5
p.L50R
c.149T>G
1 paper
NM_000706.5
p.L50P
c.149T>C
1 paper
NM_000706.5
p.E49A
c.146A>C
1 paper
NM_000706.5
p.E48A
c.143A>C
2 papers
NM_000706.5
p.E48Q
c.142G>C
2 papers
NM_000706.5
p.R46L
c.137G>T
1 paper
NM_000706.5
p.R46H
c.137G>A
1 paper
NM_000706.5
p.R46G
c.136C>G
1 paper
NM_000706.5
p.V45A
c.134T>C
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