Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.L113P

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.L113P
c.338T>C
Surrounding Variants
1 paper
NM_002060.3
p.R114W
c.340C>T
1 paper
NM_002060.3
p.E112G
c.335A>G
1 paper
NM_002060.3
p.E110D
c.330G>C
1 paper
NM_002060.3
p.E110D
c.330G>T
1 paper
NM_002060.3
p.L106P
c.317T>C
1 paper
NM_002060.3
p.V123insFs
c.368_369insT
1 paper
NM_002060.3
p.E103G
c.308A>G
1 paper
NM_002060.3
p.V123V
c.369G>A
1 paper
NM_002060.3
p.R125Q
c.374G>A
1 paper
NM_002060.3
p.R101W
c.301C>T
6 papers
NM_002060.3
p.V130I
c.388G>A
2 papers
NM_002060.3
p.H95R
c.284A>G
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