Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.H95Q

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.H95Q
c.285T>A
Surrounding Variants
1 paper
NM_000165.5
p.H95H
c.285T>C
1 paper
NM_000165.5
p.H95Q
c.285T>G
7 papers
NM_000165.5
p.H95R
c.284A>G
13 papers
NM_000165.5
p.V96M
c.286G>A
1 paper
NM_000165.5
p.V96L
c.286G>T
1 paper
NM_000165.5
p.V96delFs
c.287delT
1 paper
NM_000165.5
p.H95D
c.283C>G
2 papers
NM_000165.5
p.H95Y
c.283C>T
8 papers
NM_000165.5
p.V96E
c.287T>A
5 papers
NM_000165.5
p.V96A
c.287T>C
3 papers
NM_000165.5
p.V96G
c.287T>G
2 papers
NM_000165.5
p.Y98H
c.292T>C
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."