Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.R202H

GJA4

194 papers

RefSeq Summary

This gene encodes 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 diffusi...

Pfam Domains

Connexinaa 3–233UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein alpha 4

HGNC Alias Symbol

CX37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002060.3
p.R202H
c.605G>A
Surrounding Variants
1 paper
NM_002060.3
p.P203H
c.608C>A
1 paper
NM_002060.3
p.S201F
c.602C>T
1 paper
NM_002060.3
p.T207A
c.619A>G
1 paper
NM_002060.3
p.P193L
c.578C>T
1 paper
NM_002060.3
p.I211M
c.633C>G
2 papers
NM_002060.3
p.V216I
c.646G>A
2 papers
NM_002060.3
p.V216L
c.646G>C
1 paper
NM_002060.3
p.S220Y
c.659C>A
1 paper
NM_002060.3
p.G178S
c.532G>A
1 paper
NM_002060.3
p.R175R
c.525C>G
1 paper
NM_002060.3
p.F169V
c.505T>G
1 paper
NM_002060.3
p.F169del1
c.505_506delTTC
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