Varaico: Literature-Extracted Genetic Variants

Gene:ADGRA1
Variant:p.E390*

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.E390*
c.1168G>T
Surrounding Variants
1 paper
NM_001083909.3
p.A394A
c.1182G>A
1 paper
NM_001083909.3
p.E396K
c.1186G>A
1 paper
NM_001083909.3
p.P379L
c.1136C>T
1 paper
NM_001083909.3
p.A406T
c.1216G>A
1 paper
NM_001083909.3
p.Q371delFs
c.1111_1112delCA
1 paper
NM_001083909.3
p.G360delFs
c.1080delC
1 paper
NM_001083909.3
p.P359T
c.1075C>A
1 paper
NM_001083909.3
p.A356V
c.1067C>T
2 papers
NM_001083909.3
p.A356T
c.1066G>A
1 paper
NM_001083909.3
p.R428R
c.1284G>A
1 paper
NM_001083909.3
p.E432K
c.1294G>A
1 paper
NM_001083909.3
p.C343F
c.1028G>T
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