Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.R101*

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
6 papers
NM_000165.5
p.R101*
c.301C>T
Surrounding Variants
1 paper
NM_000165.5
p.R101Q
c.302G>A
3 papers
NM_000165.5
p.R101L
c.302G>T
1 paper
NM_000165.5
p.M100L
c.298A>C
1 paper
NM_000165.5
p.M100L
c.298A>T
2 papers
NM_000165.5
p.K102M
c.305A>T
13 papers
NM_000165.5
p.K102N
c.306G>C
13 papers
NM_000165.5
p.K102N
c.306G>T
1 paper
NM_000165.5
p.V99A
c.296T>C
1 paper
NM_000165.5
p.E104_K108delFs
c.310_323del14
1 paper
NM_000165.5
p.Y98S
c.293A>C
14 papers
NM_000165.5
p.Y98C
c.293A>G
2 papers
NM_000165.5
p.Y98H
c.292T>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."