Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.Y175C

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.Y175C
c.524A>G
Surrounding Variants
1 paper
NM_000165.5
p.Y175*
c.525C>G
2 papers
NM_000165.5
p.Y177D
c.529T>G
1 paper
NM_000165.5
p.G178R
c.532G>A
1 paper
NM_000165.5
p.L171insFs
c.512_513ins4
1 paper
NM_000165.5
p.L171insFs
c.512_513insGC
1 paper
NM_000165.5
p.L171insFs
c.512dupT
1 paper
NM_000165.5
p.S180G
c.538A>G
1 paper
NM_000165.5
p.L170V
c.508T>G
1 paper
NM_000165.5
p.F169L
c.507C>A
1 paper
NM_000165.5
p.F169L
c.507C>G
1 paper
NM_000165.5
p.F169S
c.506T>C
2 papers
NM_000165.5
p.L181F
c.543G>C
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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."