Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.L10R

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.L10R
c.29T>G
Surrounding Variants
4 papers
NM_000165.5
p.L10P
c.29T>C
1 paper
NM_000165.5
p.L10L
c.30C>T
5 papers
NM_000165.5
p.L11I
c.31C>A
12 papers
NM_000165.5
p.L11F
c.31C>T
17 papers
NM_000165.5
p.L11P
c.32T>C
2 papers
NM_000165.5
p.K9E
c.25A>G
1 paper
NM_000165.5
p.D12delins
c.35_36delinsTA
1 paper
NM_000165.5
p.D12delins
c.35_36delinsTT
2 papers
NM_000165.5
p.G8D
c.23G>A
16 papers
NM_000165.5
p.G8V
c.23G>T
4 papers
NM_000165.5
p.K13E
c.37A>G
2 papers
NM_000165.5
p.L7S
c.20T>C
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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."