Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.I130T

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
60 papers
NM_000165.5
p.I130T
c.389T>C
Surrounding Variants
3 papers
NM_000165.5
p.I130N
c.389T>A
1 paper
NM_000165.5
p.I130F
c.388A>T
2 papers
NM_000165.5
p.I132_K133del1
c.396_398delAAA
1 paper
NM_000165.5
p.I132M
c.396A>G
3 papers
NM_000165.5
p.K134del1
c.400_402delAAG
1 paper
NM_000165.5
p.L127L
c.381G>A
1 paper
NM_000165.5
p.K133K
c.399G>A
1 paper
NM_000165.5
p.K134delFs
c.400_401delAA
27 papers
NM_000165.5
p.K134E
c.400A>G
10 papers
NM_000165.5
p.K134N
c.402G>C
10 papers
NM_000165.5
p.K134N
c.402G>T
1 paper
NM_000165.5
p.M125L
c.373A>C
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