Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.P283L

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
20 papers
NM_000165.5
p.P283L
c.848C>T
Surrounding Variants
2 papers
NM_000165.5
p.P284S
c.850C>T
1 paper
NM_000165.5
p.S282Y
c.845C>A
11 papers
NM_000165.5
p.S282A
c.844T>G
1 paper
NM_000165.5
p.G285R
c.853G>A
1 paper
NM_000165.5
p.G285R
c.853G>C
1 paper
NM_000165.5
p.G285A
c.854G>C
1 paper
NM_000165.5
p.P280_M281insFs
c.840_841insA
1 paper
NM_000165.5
p.Y286F
c.857A>T
2 papers
NM_000165.5
p.P280R
c.839C>G
2 papers
NM_000165.5
p.P280A
c.838C>G
2 papers
NM_000165.5
p.K287R
c.860A>G
1 paper
NM_000165.5
p.S279*
c.836C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."