Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.N15H

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.N15H
c.43A>C
Surrounding Variants
1 paper
NM_005497.4
p.H14R
c.41A>G
1 paper
NM_005497.4
p.E12D
c.36G>T
1 paper
NM_005497.4
p.E12D
c.36G>C
1 paper
NM_005497.4
p.E12G
c.35A>G
1 paper
NM_005497.4
p.E12insFs
c.35_36insG
1 paper
NM_005497.4
p.T18I
c.53C>T
1 paper
NM_005497.4
p.L10R
c.29T>G
1 paper
NM_005497.4
p.G21R
c.61G>C
1 paper
NM_005497.4
p.G21R
c.61G>A
1 paper
NM_005497.4
p.R8H
c.23G>A
1 paper
NM_005497.4
p.S17_G21delins
c.51_63delinsA
1 paper
NM_005497.4
p.R8S
c.22C>A
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