Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.L151*

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.L151*
c.452T>A
Surrounding Variants
1 paper
NM_000165.5
p.L152V
c.454C>G
1 paper
NM_000165.5
p.G150G
c.450G>T
1 paper
NM_000165.5
p.L152L
c.456G>A
1 paper
NM_000165.5
p.R153*
c.457C>T
4 papers
NM_000165.5
p.R153Q
c.458G>A
1 paper
NM_000165.5
p.R153R
c.459A>T
25 papers
NM_000165.5
p.T154A
c.460A>G
7 papers
NM_000165.5
p.T154N
c.461C>A
3 papers
NM_000165.5
p.T154I
c.461C>T
19 papers
NM_000165.5
p.R148Q
c.443G>A
4 papers
NM_000165.5
p.R148G
c.442C>G
4 papers
NM_000165.5
p.R148*
c.442C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."