Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.R113K

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
2 papers
NM_181703.4
p.R113K
c.338G>A
Surrounding Variants
1 paper
NM_181703.4
p.R113S
c.339G>T
1 paper
NM_181703.4
p.R113S
c.339G>C
2 papers
NM_181703.4
p.E110D
c.330G>T
2 papers
NM_181703.4
p.E110D
c.330G>C
1 paper
NM_181703.4
p.E116K
c.346G>A
1 paper
NM_181703.4
p.V117I
c.349G>A
5 papers
NM_181703.4
p.K107R
c.320A>G
1 paper
NM_181703.4
p.R106P
c.317G>C
1 paper
NM_181703.4
p.R106C
c.316C>T
3 papers
NM_181703.4
p.Y123Y
c.369C>T
1 paper
NM_181703.4
p.R101L
c.302G>T
1 paper
NM_181703.4
p.P126L
c.377C>T
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