Varaico: Literature-Extracted Genetic Variants

Gene:ADGRA1
Variant:p.G339V

ADGRA1

46 papers

RefSeq Summary

This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses...

Pfam Domains

7tm_2aa 16–302UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor A1

HGNC Previous Symbol

GPR123

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001083909.3
p.G339V
c.1016G>T
Surrounding Variants
1 paper
NM_001083909.3
p.C343F
c.1028G>T
1 paper
NM_001083909.3
p.A327T
c.979G>A
2 papers
NM_001083909.3
p.A356T
c.1066G>A
1 paper
NM_001083909.3
p.P322L
c.965C>T
1 paper
NM_001083909.3
p.A356V
c.1067C>T
1 paper
NM_001083909.3
p.P359T
c.1075C>A
1 paper
NM_001083909.3
p.G360delFs
c.1080delC
2 papers
NM_001083909.3
p.V313M
c.937G>A
2 papers
NM_001083909.3
p.R310H
c.929G>A
1 paper
NM_001083909.3
p.R310C
c.928C>T
1 paper
NM_001083909.3
p.Q371delFs
c.1111_1112delCA
1 paper
NM_001083909.3
p.V302M
c.904G>A
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