Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.L229M

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
12 papers
NM_181703.4
p.L229M
c.685C>A
Surrounding Variants
1 paper
NM_181703.4
p.L229L
c.685C>T
1 paper
NM_181703.4
p.L229P
c.686T>C
1 paper
NM_181703.4
p.K233del1
c.697_698delCTT
5 papers
NM_181703.4
p.L223M
c.667C>A
5 papers
NM_181703.4
p.Q236H
c.708G>T
5 papers
NM_181703.4
p.Q236H
c.708G>C
11 papers
NM_181703.4
p.L221I
c.661C>A
1 paper
NM_181703.4
p.R237P
c.710G>C
2 papers
NM_181703.4
p.R237Q
c.710G>A
1 paper
NM_181703.4
p.L219P
c.656T>C
1 paper
NM_181703.4
p.R237_F238delins
c.711_714delinsATCCCCAGTA
2 papers
NM_181703.4
p.V239L
c.715G>C
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