NDUFAF1 c.92G>C ;(p.R31P)

Variant ID: 15-41689166-C-G

NM_016013.3(NDUFAF1):c.92G>C;(p.R31P)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs3204853
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Shared graft-vs-leukemia minor histocompatibility antigens in DISCOVeRY-BMT.

Blood Advances
Olsen, Kelly Shea KS; Jadi, Othmane O; Dexheimer, Sarah S; Bortone, Dante S DS; Vensko, Steven P SP; Bennett, Sarah Nicole SN; Tang, Hancong H; Diiorio, Marisa M; Saran, Tanvi T; Dingfelder, David D; Zhu, Qianqian Q; Wang, Yiwen Y; Haiman, Christopher A CA; Pooler, Loreall L; Sheng, Xin X; Webb, Amy A; Pasquini, Marcelo C MC; McCarthy, Philip L PL; Spellman, Stephen R SR; Weimer, Eric T ET; Hahn, Theresa T; Sucheston-Campbell, Lara E LE; Armistead, Paul M PM; Vincent, Benjamin B
Publication Date: 2022-12-07

Variant appearance in text: rs3204853
PubMed Link: 36477467
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3204853
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs3204853
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs3204853
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs3204853
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Bmc Genetics
Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ
Publication Date: 2007-07-02

Variant appearance in text: rs3204853
PubMed Link: 17601350
Variant Present in the following documents:
  • Main text
  • 1471-2156-8-43.pdf
View BVdb publication page