Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.K371N

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.K371N
c.1113A>C
Surrounding Variants
1 paper
NM_005497.4
p.K371N
c.1113A>T
1 paper
NM_005497.4
p.S374A
c.1120T>G
1 paper
NM_005497.4
p.E367*
c.1099G>T
1 paper
NM_005497.4
p.R366W
c.1096C>T
1 paper
NM_005497.4
p.S381G
c.1141A>G
1 paper
NM_005497.4
p.S384G
c.1150A>G
1 paper
NM_005497.4
p.T392I
c.1175C>T
3 papers
NM_005497.4
p.V394I
c.1180G>A
1 paper
NM_005497.4
p.E347Q
c.1039G>C
1 paper
NM_005497.4
p.R340Q
c.1019G>A
1 paper
NM_005497.4
p.R340W
c.1018C>T
1 paper
NM_005497.4
p.E336Q
c.1006G>C
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