Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.R106P

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.R106P
c.317G>C
Surrounding Variants
1 paper
NM_181703.4
p.R106C
c.316C>T
5 papers
NM_181703.4
p.K107R
c.320A>G
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.R101L
c.302G>T
2 papers
NM_181703.4
p.R113K
c.338G>A
1 paper
NM_181703.4
p.R113S
c.339G>T
1 paper
NM_181703.4
p.R113S
c.339G>C
1 paper
NM_181703.4
p.H98R
c.293A>G
1 paper
NM_181703.4
p.H98P
c.293A>C
1 paper
NM_181703.4
p.A96delFs
c.287delG
1 paper
NM_181703.4
p.E116K
c.346G>A
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