Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.K303R

GJA1

843 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 3–233UCSCConnexin
Connexin43aa 283–361UCSCGap junction alpha-1 protein (Cx43)

Gene Aliases

HGNC Name

gap junction protein alpha 1

HGNC Previous Symbols

ODDD; GJAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000165.5
p.K303R
c.908A>G
Surrounding Variants
1 paper
NM_000165.5
p.N302D
c.904A>G
1 paper
NM_000165.5
p.A305T
c.913G>A
1 paper
NM_000165.5
p.A305P
c.913G>C
1 paper
NM_000165.5
p.N300I
c.899A>T
1 paper
NM_000165.5
p.R299S
c.895C>A
1 paper
NM_000165.5
p.R299G
c.895C>G
1 paper
NM_000165.5
p.R299_N300del2
c.895_899del6
1 paper
NM_000165.5
p.C298S
c.893G>C
1 paper
NM_000165.5
p.C298S
c.892T>A
1 paper
NM_000165.5
p.N309I
c.926A>T
1 paper
NM_000165.5
p.W310_A323del14
c.928_968del42
2 papers
NM_000165.5
p.S297A
c.889T>G
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