Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.P282T

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.P282T
c.844C>A
Surrounding Variants
1 paper
NM_181703.4
p.F279F
c.837C>T
1 paper
NM_181703.4
p.K278I
c.833A>T
1 paper
NM_181703.4
p.C270Y
c.809G>A
1 paper
NM_181703.4
p.T293_D294insFs
c.879_880insA
1 paper
NM_181703.4
p.D294D
c.882C>T
1 paper
NM_181703.4
p.Q269*
c.805C>T
1 paper
NM_181703.4
p.N295S
c.884A>G
8 papers
NM_181703.4
p.P265S
c.793C>T
1 paper
NM_181703.4
p.P264L
c.791C>T
2 papers
NM_181703.4
p.R302*
c.904C>T
1 paper
NM_181703.4
p.R302P
c.905G>C
1 paper
NM_181703.4
p.R302Q
c.905G>A
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