Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.V52L

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
1 paper
NM_005497.4
p.V52L
c.154G>C
Surrounding Variants
1 paper
NM_005497.4
p.N54H
c.160A>C
1 paper
NM_005497.4
p.T55I
c.164C>T
1 paper
NM_005497.4
p.Q57*
c.169C>T
1 paper
NM_005497.4
p.G59R
c.175G>C
1 paper
NM_005497.4
p.G59S
c.175G>A
1 paper
NM_005497.4
p.C60F
c.179G>T
1 paper
NM_005497.4
p.E61D
c.183G>C
1 paper
NM_005497.4
p.V63I
c.187G>A
1 paper
NM_005497.4
p.C64S
c.190T>A
1 paper
NM_005497.4
p.C64S
c.191G>C
1 paper
NM_005497.4
p.Y65H
c.193T>C
1 paper
NM_005497.4
p.D66H
c.196G>C
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