Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.F52I

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
23 papers
NM_000165.5
p.F52I
c.154T>A
Surrounding Variants
1 paper
NM_000165.5
p.F52L
c.154T>C
4 papers
NM_000165.5
p.F52ins0
c.154_156dupTTT
2 papers
NM_000165.5
p.F52L
c.156T>A
1 paper
NM_000165.5
p.F52L
c.156T>G
1 paper
NM_000165.5
p.R53G
c.157C>G
1 paper
NM_000165.5
p.R53C
c.157C>T
4 papers
NM_000165.5
p.S50P
c.148T>C
2 papers
NM_000165.5
p.Q49H
c.147G>C
2 papers
NM_000165.5
p.Q49H
c.147G>T
5 papers
NM_000165.5
p.Q49P
c.146A>C
4 papers
NM_000165.5
p.N55D
c.163A>G
21 papers
NM_000165.5
p.Q49K
c.145C>A
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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."