Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.L353L

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
2 papers
NM_000165.5
p.L353L
c.1057T>C
Surrounding Variants
2 papers
NM_000165.5
p.E352G
c.1055A>G
1 paper
NM_000165.5
p.A349V
c.1046C>T
1 paper
NM_000165.5
p.A349T
c.1045G>A
1 paper
NM_000165.5
p.A357P
c.1069G>C
1 paper
NM_000165.5
p.A349S
c.1045G>T
1 paper
NM_000165.5
p.A348P
c.1042G>C
1 paper
NM_000165.5
p.V359M
c.1075G>A
1 paper
NM_000165.5
p.V359L
c.1075G>C
1 paper
NM_000165.5
p.V359L
c.1075G>T
1 paper
NM_000165.5
p.K346R
c.1037A>G
1 paper
NM_000165.5
p.K345R
c.1034A>G
1 paper
NM_000165.5
p.D360E
c.1080C>A
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