Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.F52I

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
6 papers
NM_002060.3
p.F52I
c.154T>A
Surrounding Variants
1 paper
NM_002060.3
p.E53*
c.157G>T
1 paper
NM_002060.3
p.D51delFs
c.151_152delGA
1 paper
NM_002060.3
p.S50P
c.148T>C
3 papers
NM_002060.3
p.Q49Q
c.147A>G
1 paper
NM_002060.3
p.N55D
c.163A>G
2 papers
NM_002060.3
p.Q49K
c.145C>A
1 paper
NM_002060.3
p.N55I
c.164A>T
2 papers
NM_002060.3
p.E48K
c.142G>A
1 paper
NM_002060.3
p.D47A
c.140A>C
1 paper
NM_002060.3
p.D47N
c.139G>A
1 paper
NM_002060.3
p.G46D
c.137G>A
1 paper
NM_002060.3
p.G46V
c.137G>T
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