Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.R370G

GJA1

843 papers

RefSeq Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of...

Pfam Domains

Connexinaa 3–233UCSCConnexin
Connexin43aa 283–361UCSCGap junction alpha-1 protein (Cx43)

Gene Aliases

HGNC Name

gap junction protein alpha 1

HGNC Previous Symbols

ODDD; GJAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000165.5
p.R370G
c.1108C>G
Surrounding Variants
1 paper
NM_000165.5
p.R370C
c.1108C>T
2 papers
NM_000165.5
p.R370H
c.1109G>A
1 paper
NM_000165.5
p.S369G
c.1105A>G
1 paper
NM_000165.5
p.S368T
c.1103G>C
1 paper
NM_000165.5
p.S372N
c.1115G>A
3 papers
NM_000165.5
p.S373G
c.1117A>G
1 paper
NM_000165.5
p.A367T
c.1099G>A
3 papers
NM_000165.5
p.S365N
c.1094G>A
1 paper
NM_000165.5
p.S365T
c.1094G>C
1 paper
NM_000165.5
p.P375A
c.1123C>G
1 paper
NM_000165.5
p.R376G
c.1126C>G
14 papers
NM_000165.5
p.S364P
c.1090T>C
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