Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.M235L

GJC1

137 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 2–255UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein gamma 1

HGNC Previous Symbol

GJA7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_005497.4
p.M235L
c.703A>C
Surrounding Variants
4 papers
NM_005497.4
p.M235L
c.703A>T
2 papers
NM_005497.4
p.G237S
c.709G>A
1 paper
NM_005497.4
p.K228N
c.684G>T
1 paper
NM_005497.4
p.P225P
c.675C>T
2 papers
NM_005497.4
p.I247M
c.741T>G
1 paper
NM_005497.4
p.C214F
c.641G>T
1 paper
NM_005497.4
p.G256W
c.766G>T
1 paper
NM_005497.4
p.G256R
c.766G>A
1 paper
NM_005497.4
p.F206I
c.616T>A
1 paper
NM_005497.4
p.P205Q
c.614C>A
1 paper
NM_005497.4
p.H204P
c.611A>C
1 paper
NM_005497.4
p.E270D
c.810G>T
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