Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.K237_D238delins

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.K237_D238delins
c.711_714delinsATCCCCAGTA
Surrounding Variants
1 paper
NM_000165.5
p.K237R
c.710A>G
4 papers
NM_000165.5
p.R239W
c.715C>T
9 papers
NM_000165.5
p.R239Q
c.716G>A
2 papers
NM_000165.5
p.V236I
c.706G>A
7 papers
NM_000165.5
p.R239R
c.717G>A
1 paper
NM_000165.5
p.K241_S255del15
c.721_764del45
1 paper
NM_000165.5
p.K234R
c.701A>G
1 paper
NM_000165.5
p.K241R
c.722A>G
1 paper
NM_000165.5
p.K243R
c.728A>G
1 paper
NM_000165.5
p.F232I
c.694T>A
1 paper
NM_000165.5
p.F232L
c.694T>C
1 paper
NM_000165.5
p.V231I
c.691G>A
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