Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.H248Y

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.H248Y
c.742C>T
Surrounding Variants
1 paper
NM_000165.5
p.H248R
c.743A>G
5 papers
NM_000165.5
p.Y247F
c.740A>T
1 paper
NM_000165.5
p.A249insFs
c.745dupG
1 paper
NM_000165.5
p.A249S
c.745G>T
1 paper
NM_000165.5
p.Y247fs
c.739_740fs
1 paper
NM_000165.5
p.A249V
c.746C>T
1 paper
NM_000165.5
p.P246_Y247delFs
c.738_739delTT
1 paper
NM_000165.5
p.P246T
c.736C>A
6 papers
NM_000165.5
p.S251T
c.752G>C
1 paper
NM_000165.5
p.S251I
c.752G>T
1 paper
NM_000165.5
p.G252R
c.754G>C
1 paper
NM_000165.5
p.K243R
c.728A>G
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