Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.K258*

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
3 papers
NM_000165.5
p.K258*
c.772A>T
Surrounding Variants
1 paper
NM_000165.5
p.D259insFs
c.776_777insG
1 paper
NM_000165.5
p.P256P
c.768T>C
1 paper
NM_000165.5
p.P256H
c.767C>A
6 papers
NM_000165.5
p.C260_G261delFs
c.780_781delTG
1 paper
NM_000165.5
p.C260S
c.778T>A
1 paper
NM_000165.5
p.C260fs
c.778_779fs
2 papers
NM_000165.5
p.S255S
c.765C>T
1 paper
NM_000165.5
p.C260S
c.779G>C
1 paper
NM_000165.5
p.C260W
c.780T>G
1 paper
NM_000165.5
p.G261W
c.781G>T
1 paper
NM_000165.5
p.G261E
c.782G>A
9 papers
NM_000165.5
p.S262A
c.784T>G
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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."