Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.E42Q

GJA5

275 papers

RefSeq Summary

This gene is 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 diffusion of...

Pfam Domains

Connexinaa 3–231UCSCConnexin
Connexin40_Caa 257–358UCSCConnexin 40 C-terminal domain

Gene Aliases

HGNC Name

gap junction protein alpha 5

HGNC Alias Symbol

CX40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181703.4
p.E42Q
c.124G>C
Surrounding Variants
1 paper
NM_181703.4
p.E42*
c.124G>T
3 papers
NM_181703.4
p.E42K
c.124G>A
1 paper
NM_181703.4
p.A41S
c.121G>T
1 paper
NM_181703.4
p.A41T
c.121G>A
7 papers
NM_181703.4
p.A40V
c.119C>T
2 papers
NM_181703.4
p.A40G
c.119C>G
1 paper
NM_181703.4
p.T39delFs
c.115delT
1 paper
NM_181703.4
p.W45L
c.134G>T
1 paper
NM_181703.4
p.W45S
c.134G>C
1 paper
NM_181703.4
p.G38V
c.113G>T
22 papers
NM_181703.4
p.G38D
c.113G>A
2 papers
NM_181703.4
p.G38S
c.112G>A
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