Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.Q49*

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
10 papers
NM_181703.4
p.Q49*
c.145C>T
Surrounding Variants
1 paper
NM_181703.4
p.Q49E
c.145C>G
4 papers
NM_181703.4
p.Q49K
c.145C>A
1 paper
NM_181703.4
p.Q49L
c.146A>T
1 paper
NM_181703.4
p.Q49P
c.146A>C
2 papers
NM_181703.4
p.E48K
c.142G>A
1 paper
NM_181703.4
p.D47A
c.140A>C
1 paper
NM_181703.4
p.D47N
c.139G>A
3 papers
NM_181703.4
p.G46V
c.137G>T
1 paper
NM_181703.4
p.G46E
c.137G>A
3 papers
NM_181703.4
p.F52I
c.154T>A
1 paper
NM_181703.4
p.W45L
c.134G>T
1 paper
NM_181703.4
p.W45S
c.134G>C
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