Varaico: Literature-Extracted Genetic Variants

Gene:TMEM126A
Variant:p.G114C

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.G114C
c.340G>T
Surrounding Variants
1 paper
NM_032273.4
p.Y117*
c.351C>A
1 paper
NM_032273.4
p.Y117*
c.351C>G
2 papers
NM_032273.4
p.R105Q
c.314G>A
1 paper
NM_032273.4
p.R105W
c.313C>T
1 paper
NM_032273.4
p.G127delFs
c.379delG
1 paper
NM_032273.4
p.C98delFs
c.292_293delTG
1 paper
NM_032273.4
p.R132W
c.394A>T
1 paper
NM_032273.4
p.R132Splc
c.395+10A>G
1 paper
NM_032273.4
p.Q134delFs
c.401delA
1 paper
NM_032273.4
p.K141delFs
c.422delA
1 paper
NM_032273.4
p.F161I
c.481T>A
1 paper
NM_032273.4
p.F161fs
c.481_482fs
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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."