Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.Y123Y

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
3 papers
NM_181703.4
p.Y123Y
c.369C>T
Surrounding Variants
1 paper
NM_181703.4
p.P126L
c.377C>T
1 paper
NM_181703.4
p.V117I
c.349G>A
1 paper
NM_181703.4
p.E116K
c.346G>A
1 paper
NM_181703.4
p.E132K
c.394G>A
1 paper
NM_181703.4
p.L133P
c.398T>C
1 paper
NM_181703.4
p.L133Q
c.398T>A
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.R113K
c.338G>A
1 paper
NM_181703.4
p.S134S
c.402C>T
2 papers
NM_181703.4
p.E110D
c.330G>T
1 paper
NM_181703.4
p.W136C
c.408G>T
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