Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.M1insFs

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.M1insFs
c.1dupA
Surrounding Variants
1 paper
NM_181703.4
p.M1R
c.2T>G
1 paper
NM_181703.4
p.M1T
c.2T>C
1 paper
NM_181703.4
p.M1V
c.1A>G
3 papers
NM_181703.4
p.G2V
c.5G>T
1 paper
NM_181703.4
p.G2insFs
c.4dupG
2 papers
NM_181703.4
p.D3N
c.7G>A
1 paper
NM_181703.4
p.W4*
c.12G>A
1 paper
NM_181703.4
p.W4insFs
c.11dupG
1 paper
NM_181703.4
p.S5insFs
c.13dupA
1 paper
NM_181703.4
p.S5R
c.15C>A
2 papers
NM_181703.4
p.L7V
c.19C>G
1 paper
NM_181703.4
p.L7L
c.21G>C
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