Varaico: Literature-Extracted Genetic Variants

Gene:TMEM126A
Variant:p.N42K
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TMEM126A

NM_032273.4:p.N42K

Associated Papers

TANGO2 binds crystallin alpha B and its loss causes desminopathy.

Stentenbach M et al.

Nature Communications, 2025

40480980 (PubMed )
Supplement: 41467_2025_60563_MOESM6_ESM.xlsx › Liver_NCD

Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.

Formosa LE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

The mitochondrial HSP90 paralog TRAP1 forms an OXPHOS-regulated tetramer and is involved in mitochondrial metabolic homeostasis.

Joshi A et al.

Bmc Biology, 2020

31987035 (PubMed )
Supplement: 12915_2020_740_MOESM7_ESM.xlsx › Summary

Ion channel modulator DPI-201-106 significantly enhances antitumor activity of DNA damage response inhibitors in glioblastoma.

Dewdney B et al.

Neuro-oncology Advances, 0

39659830 (PubMed )
Supplement: vdae187_suppl_Supplementary_Tables_S4-S19.xlsx › STable6
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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."