Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.L7V

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.L7V
c.19C>G
Surrounding Variants
1 paper
NM_002060.3
p.G5D
c.14G>A
1 paper
NM_002060.3
p.G5R
c.13G>C
1 paper
NM_002060.3
p.D3E
c.9C>A
1 paper
NM_002060.3
p.D3E
c.9C>G
3 papers
NM_002060.3
p.D3N
c.7G>A
1 paper
NM_002060.3
p.D3Y
c.7G>T
3 papers
NM_002060.3
p.L11P
c.32T>C
3 papers
NM_002060.3
p.G2V
c.5G>T
1 paper
NM_002060.3
p.G2S
c.4G>A
1 paper
NM_002060.3
p.D12V
c.35A>T
1 paper
NM_002060.3
p.Q15P
c.44A>C
1 paper
NM_002060.3
p.H17P
c.50A>C
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