AMACR c.554T>C ;(p.V185A)

Variant ID: 5-33998931-A-G

NM_014324.5(AMACR):c.554T>C;(p.V185A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.

Computational And Structural Biotechnology Journal
Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T
Publication Date: 2021

Variant appearance in text: P504S: V185A
PubMed Link: 34109017
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Analysis of Human Mutations in the Supernumerary Subunits of Complex I.

Life (Basel, Switzerland)
Dang, Quynh-Chi L QL; Phan, Duong H DH; Johnson, Abigail N AN; Pasapuleti, Mukund M; Alkhaldi, Hind A HA; Zhang, Fang F; Vik, Steven B SB
Publication Date: 2020-11-20

Variant appearance in text: AMACR: Val185Ala
PubMed Link: 33233646
Variant Present in the following documents:
  • Main text
  • life-10-00296.pdf
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: AMACR: V185A; rs145786819
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Jama Neurology
Fogel, Brent L BL; Lee, Hane H; Deignan, Joshua L JL; Strom, Samuel P SP; Kantarci, Sibel S; Wang, Xizhe X; Quintero-Rivera, Fabiola F; Vilain, Eric E; Grody, Wayne W WW; Perlman, Susan S; Geschwind, Daniel H DH; Nelson, Stanley F SF
Publication Date: 2014-10

Variant appearance in text: AMACR: 554T>C; Val185Ala
PubMed Link: 25133958
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

Nature Genetics
Calvo, Sarah E SE; Tucker, Elena J EJ; Compton, Alison G AG; Kirby, Denise M DM; Crawford, Gabriel G; Burtt, Noel P NP; Rivas, Manuel M; Guiducci, Candace C; Bruno, Damien L DL; Goldberger, Olga A OA; Redman, Michelle C MC; Wiltshire, Esko E; Wilson, Callum J CJ; Altshuler, David D; Gabriel, Stacey B SB; Daly, Mark J MJ; Thorburn, David R DR; Mootha, Vamsi K VK
Publication Date: 2010-10

Variant appearance in text: AMACR: 554T>C; V185A
PubMed Link: 20818383
Variant Present in the following documents:
  • NIHMS228290-supplement-2.xls, sheet 3
  • NIHMS228290-supplement-2.xls, sheet 2
View BVdb publication page