Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.F70L

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.F70L
c.210C>G
Surrounding Variants
2 papers
NM_181703.4
p.F70L
c.210C>A
2 papers
NM_181703.4
p.F70L
c.208T>C
1 paper
NM_181703.4
p.I72M
c.216C>G
1 paper
NM_181703.4
p.S73P
c.217T>C
1 paper
NM_181703.4
p.S73F
c.218C>T
1 paper
NM_181703.4
p.D67G
c.200A>G
2 papers
NM_181703.4
p.H74L
c.221A>T
1 paper
NM_181703.4
p.H74P
c.221A>C
1 paper
NM_181703.4
p.Y66*
c.198C>G
1 paper
NM_181703.4
p.Y66*
c.198C>A
6 papers
NM_181703.4
p.I75F
c.223A>T
1 paper
NM_181703.4
p.R76C
c.226C>T
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