Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.P296Q

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.P296Q
c.887C>A
Surrounding Variants
2 papers
NM_005497.4
p.D297N
c.889G>A
2 papers
NM_005497.4
p.T302T
c.906C>T
2 papers
NM_005497.4
p.L304L
c.912G>T
1 paper
NM_005497.4
p.S305P
c.913T>C
2 papers
NM_005497.4
p.A310T
c.928G>A
1 paper
NM_005497.4
p.E270D
c.810G>T
1 paper
NM_005497.4
p.E270D
c.810G>C
1 paper
NM_005497.4
p.E336Q
c.1006G>C
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.R340W
c.1018C>T
1 paper
NM_005497.4
p.R340Q
c.1019G>A
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