Varaico: Literature-Extracted Genetic Variants

Gene:GJA5
Variant:p.Y197*

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.Y197*
c.591C>A
Surrounding Variants
1 paper
NM_181703.4
p.Y197*
c.591C>G
1 paper
NM_181703.4
p.C196G
c.586T>G
1 paper
NM_181703.4
p.S199F
c.596C>T
1 paper
NM_181703.4
p.N195D
c.583A>G
1 paper
NM_181703.4
p.V194A
c.581T>C
3 papers
NM_181703.4
p.P193L
c.578C>T
2 papers
NM_181703.4
p.P193Q
c.578C>A
1 paper
NM_181703.4
p.T202S
c.604A>T
1 paper
NM_181703.4
p.E203K
c.607G>A
1 paper
NM_181703.4
p.E203A
c.608A>C
1 paper
NM_181703.4
p.N205S
c.614A>G
3 papers
NM_181703.4
p.P189L
c.566C>T
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