Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.L145fs

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.L145fs
c.433_434fs
Surrounding Variants
1 paper
NM_181703.4
p.L145delFs
c.433delG
1 paper
NM_181703.4
p.T148I
c.443C>T
3 papers
NM_181703.4
p.R142W
c.424A>T
2 papers
NM_181703.4
p.N140N
c.420T>C
1 paper
NM_181703.4
p.L150delFs
c.448_449delAG
1 paper
NM_181703.4
p.E138Q
c.412G>C
1 paper
NM_181703.4
p.W136C
c.408G>T
1 paper
NM_181703.4
p.W136C
c.408G>C
1 paper
NM_181703.4
p.S134S
c.402C>T
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.E132K
c.394G>A
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