Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.S325G

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.S325G
c.973A>G
Surrounding Variants
2 papers
NM_000165.5
p.T326A
c.976A>G
2 papers
NM_000165.5
p.T326S
c.976A>T
2 papers
NM_000165.5
p.T326S
c.977C>G
6 papers
NM_000165.5
p.T326I
c.977C>T
3 papers
NM_000165.5
p.A323V
c.968C>T
1 paper
NM_000165.5
p.I327delFs
c.981delC
1 paper
NM_000165.5
p.I327M
c.981C>G
1 paper
NM_000165.5
p.Q322E
c.964C>G
3 papers
NM_000165.5
p.S328A
c.982T>G
4 papers
NM_000165.5
p.S328Y
c.983C>A
1 paper
NM_000165.5
p.G321V
c.962G>T
1 paper
NM_000165.5
p.G321R
c.961G>A
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