Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.P264L

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.P264L
c.791C>T
Surrounding Variants
8 papers
NM_181703.4
p.P265S
c.793C>T
1 paper
NM_181703.4
p.Q269*
c.805C>T
1 paper
NM_181703.4
p.C270Y
c.809G>A
4 papers
NM_181703.4
p.I257L
c.769A>T
4 papers
NM_181703.4
p.I257L
c.769A>C
1 paper
NM_181703.4
p.S254P
c.760T>C
1 paper
NM_181703.4
p.K278I
c.833A>T
1 paper
NM_181703.4
p.Q249insFs
c.745dupC
1 paper
NM_181703.4
p.F279F
c.837C>T
1 paper
NM_181703.4
p.P282T
c.844C>A
2 papers
NM_181703.4
p.V239L
c.715G>C
1 paper
NM_181703.4
p.R237_F238delins
c.711_714delinsATCCCCAGTA
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