Varaico: Literature-Extracted Genetic Variants

Gene:TMEM126A
Variant:p.G35E

TMEM126A

53 papers

RefSeq Summary

The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different is...

Pfam Domains

TMEM126aa 11–191UCSCTransmembrane protein 126

Gene Aliases

HGNC Name

transmembrane protein 126A

HGNC Alias Symbols

DKFZp586C1924; OPA7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032273.4
p.G35E
c.104G>A
Surrounding Variants
4 papers
NM_032273.4
p.S36L
c.107C>T
1 paper
NM_032273.4
p.N30I
c.89A>T
1 paper
NM_032273.4
p.N42D
c.124A>G
4 papers
NM_032273.4
p.N42K
c.126T>A
1 paper
NM_032273.4
p.N51D
c.151A>G
2 papers
NM_032273.4
p.S52G
c.154A>G
20 papers
NM_032273.4
p.R55*
c.163C>T
1 paper
NM_032273.4
p.A66T
c.196G>A
1 paper
NM_032273.4
p.A66S
c.196G>T
1 paper
NM_032273.4
p.A66delFs
c.198delT
1 paper
NM_032273.4
p.A72T
c.214G>A
1 paper
NM_032273.4
p.A72delFs
c.216delA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."