Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.A311G

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.A311G
c.932C>G
Surrounding Variants
3 papers
NM_000165.5
p.A311V
c.932C>T
3 papers
NM_000165.5
p.A311fs
c.931_932fs
20 papers
NM_000165.5
p.A311delFs
c.932delC
3 papers
NM_000165.5
p.A311fs
c.931_932fs
1 paper
NM_000165.5
p.W310*
c.930G>A
1 paper
NM_000165.5
p.W310*
c.929G>A
1 paper
NM_000165.5
p.W310_A323del14
c.928_968del42
1 paper
NM_000165.5
p.Y313D
c.937T>G
1 paper
NM_000165.5
p.Y313_S314insA
c.937_941ins3
1 paper
NM_000165.5
p.N309I
c.926A>T
1 paper
NM_000165.5
p.Y313F
c.938A>T
1 paper
NM_000165.5
p.A305T
c.913G>A
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