SI c.374_375delinsAC ;(p.G125D)

Variant ID: 3-164786618-TC-GT

NM_001041.3(SI):c.374_375delinsAC;(p.G125D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: SI: G125D
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Disease-associated mitochondrial mutations and the evolution of primate mitogenomes.

Plos One
Tavares, William Corrêa WC; Seuánez, Héctor N HN
Publication Date: 2017

Variant appearance in text: SI: G125D
PubMed Link: 28510580
Variant Present in the following documents:
  • pone.0177403.pdf
View BVdb publication page



A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Namslauer, Ida I; Brzezinski, Peter P
Publication Date: 2009-03-03

Variant appearance in text: SI: Gly125Asp
PubMed Link: 19218458
Variant Present in the following documents:
  • Main text
View BVdb publication page