NDUFAF2 c.-33G>A

Variant ID: 5-60241050-G-A

NM_174889.4(NDUFAF2):c.-33G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: rs200299226
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Clinical Sarcoma Research
Heinrich, Michael C MC; Patterson, Janice J; Beadling, Carol C; Wang, Yuexiang Y; Debiec-Rychter, Maria M; Dewaele, Barbara B; Corless, Christopher L CL; Duensing, Anette A; Raut, Chandrajit P CP; Rubin, Brian B; Ordog, Tamas T; van de Rijn, Matt M; Call, Jerry J; Mühlenberg, Thomas T; Fletcher, Jonathan A JA; Bauer, Sebastian S
Publication Date: 2019

Variant appearance in text: rs200299226
PubMed Link: 30867899
Variant Present in the following documents:
  • 13569_2019_112_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: NDUFAF2: -33G>A; rs200299226
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page