Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.A40V

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
47 papers
NM_000165.5
p.A40V
c.119C>T
Surrounding Variants
1 paper
NM_000165.5
p.A40E
c.119C>A
2 papers
NM_000165.5
p.A40G
c.119C>G
1 paper
NM_000165.5
p.V41_E42del1
c.122_124delTTG
1 paper
NM_000165.5
p.V41I
c.121G>A
11 papers
NM_000165.5
p.V41L
c.121G>C
1 paper
NM_000165.5
p.V41_S50del0
c.122_148del27
3 papers
NM_000165.5
p.T39R
c.116C>G
1 paper
NM_000165.5
p.V41A
c.122T>C
1 paper
NM_000165.5
p.T39A
c.115A>G
1 paper
NM_000165.5
p.T39S
c.115A>T
1 paper
NM_000165.5
p.E42del1
c.124_125delGAG
20 papers
NM_000165.5
p.E42K
c.124G>A
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