Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.I31I

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.I31I
c.93T>C
Surrounding Variants
22 papers
NM_000165.5
p.I31M
c.93T>G
1 paper
NM_000165.5
p.F32I
c.94T>A
2 papers
NM_000165.5
p.I31T
c.92T>C
2 papers
NM_000165.5
p.F32L
c.94T>C
1 paper
NM_000165.5
p.F32V
c.94T>G
3 papers
NM_000165.5
p.I31F
c.91A>T
2 papers
NM_000165.5
p.F32L
c.96C>A
2 papers
NM_000165.5
p.F32L
c.96C>G
18 papers
NM_000165.5
p.R33*
c.97C>T
1 paper
NM_000165.5
p.R33P
c.98G>C
2 papers
NM_000165.5
p.R33L
c.98G>T
2 papers
NM_000165.5
p.F30V
c.88T>G
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."