AMACR c.324T>G ;(p.S108R)

Variant ID: 5-34005928-A-C

NM_014324.5(AMACR):c.324T>G;(p.S108R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: AMACR: S108R
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: AMACR: S108R
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_1.xlsx, sheet 6
View BVdb publication page