Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.G316S

GJA4

194 papers

RefSeq Summary

This gene encodes 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 diffusi...

Pfam Domains

Connexinaa 3–233UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein alpha 4

HGNC Alias Symbol

CX37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_002060.3
p.G316S
c.946G>A
Surrounding Variants
41 papers
NM_002060.3
p.P319S
c.955C>T
1 paper
NM_002060.3
p.P312H
c.935C>A
1 paper
NM_002060.3
p.P311delFs
c.932delC
1 paper
NM_002060.3
p.S328A
c.982T>G
1 paper
NM_002060.3
p.S302A
c.904T>G
1 paper
NM_002060.3
p.A301E
c.902C>A
1 paper
NM_002060.3
p.A301V
c.902C>T
1 paper
NM_002060.3
p.R299S
c.897G>C
1 paper
NM_002060.3
p.R299S
c.897G>T
2 papers
NM_002060.3
p.E298D
c.894G>C
3 papers
NM_002060.3
p.E298D
c.894G>T
1 paper
NM_002060.3
p.N293K
c.879C>A
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