Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.L90V

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
4 papers
NM_181703.4
p.L90V
c.268C>G
Surrounding Variants
1 paper
NM_181703.4
p.L90P
c.269T>C
1 paper
NM_181703.4
p.S89T
c.265T>A
19 papers
NM_181703.4
p.P88S
c.262C>T
2 papers
NM_181703.4
p.P88T
c.262C>A
1 paper
NM_181703.4
p.T87M
c.260C>T
1 paper
NM_181703.4
p.M93I
c.279G>T
1 paper
NM_181703.4
p.M93I
c.279G>C
1 paper
NM_181703.4
p.M93I
c.279G>A
1 paper
NM_181703.4
p.S86Y
c.257C>A
12 papers
NM_181703.4
p.V85I
c.253G>A
3 papers
NM_181703.4
p.H95R
c.284A>G
1 paper
NM_181703.4
p.H95insFs
c.283dupC
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