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MSH6 c.3289C>T ;(p.P1097S)
Variant ID: 2-48030675-C-T
NM_000179.2(
MSH6
):c.3289C>T;(p.P1097S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients.
Cancer Discovery
Crisafulli, Giovanni G; Sartore-Bianchi, Andrea A; Lazzari, Luca L; Pietrantonio, Filippo F; Amatu, Alessio A; Macagno, Marco M; Barault, Ludovic L; Cassingena, Andrea A; Bartolini, Alice A; Luraghi, Paolo P; Mauri, Gianluca G; Battuello, Paolo P; Personeni, Nicola N; Zampino, Maria Giulia MG; Pessei, Valeria V; Vitiello, Pietro Paolo PP; Tosi, Federica F; Idotta, Laura L; Morano, Federica F; Valtorta, Emanuele E; Bonoldi, Emanuela E; Germano, Giovanni G; Di Nicolantonio, Federica F; Marsoni, Silvia S; Siena, Salvatore S; Bardelli, Alberto A
Publication Date: 2022-07-06
Variant appearance in text: MSH6: P1097S
PubMed Link:
35522273
Variant Present in the following documents:
1656.pdf
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: MSH6: 3289C>T; P1097S
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Oncotarget
Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-01-31
Variant appearance in text: MSH6: P1097S
PubMed Link:
28002797
Variant Present in the following documents:
oncotarget-08-7852-s002.xlsx, sheet 13
View BVdb publication page