Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.T27insFs

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.T27insFs
c.80_81insGG
Surrounding Variants
1 paper
NM_181703.4
p.L29L
c.87C>A
1 paper
NM_181703.4
p.I31T
c.92T>C
2 papers
NM_181703.4
p.K23T
c.68A>C
4 papers
NM_181703.4
p.I31M
c.93A>G
1 paper
NM_181703.4
p.F32I
c.94T>A
1 paper
NM_181703.4
p.V21V
c.63A>G
1 paper
NM_181703.4
p.V20_V21ins1
c.60_61insAGC
3 papers
NM_181703.4
p.M34T
c.101T>C
1 paper
NM_181703.4
p.L35L
c.105C>G
1 paper
NM_181703.4
p.T19A
c.55A>G
1 paper
NM_181703.4
p.S18P
c.52T>C
1 paper
NM_181703.4
p.H17R
c.50A>G
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