Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.R167W

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.R167W
c.499C>T
Surrounding Variants
1 paper
NM_005497.4
p.R167Q
c.500G>A
1 paper
NM_005497.4
p.G172W
c.514G>T
1 paper
NM_005497.4
p.Y177D
c.529T>G
1 paper
NM_005497.4
p.S156R
c.468C>G
1 paper
NM_005497.4
p.S156R
c.468C>A
1 paper
NM_005497.4
p.S156R
c.466A>C
1 paper
NM_005497.4
p.Q180*
c.538C>T
1 paper
NM_005497.4
p.L181F
c.543G>T
1 paper
NM_005497.4
p.L181F
c.543G>C
1 paper
NM_005497.4
p.A183T
c.547G>A
2 papers
NM_005497.4
p.R184G
c.550A>G
1 paper
NM_005497.4
p.D149E
c.447T>G
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