Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.S18P

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
2 papers
NM_002060.3
p.S18P
c.52T>C
Surrounding Variants
1 paper
NM_002060.3
p.H17Q
c.51C>G
1 paper
NM_002060.3
p.H17P
c.50A>C
1 paper
NM_002060.3
p.T19S
c.56C>G
1 paper
NM_002060.3
p.V20M
c.58G>A
1 paper
NM_002060.3
p.Q15P
c.44A>C
2 papers
NM_002060.3
p.K23T
c.68A>C
1 paper
NM_002060.3
p.D12V
c.35A>T
3 papers
NM_002060.3
p.L11P
c.32T>C
1 paper
NM_002060.3
p.L26P
c.77T>C
4 papers
NM_002060.3
p.L7V
c.19C>G
1 paper
NM_002060.3
p.G5D
c.14G>A
1 paper
NM_002060.3
p.G5R
c.13G>C
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