MSH6 c.1805C>A ;(p.S602*)

Variant ID: 2-48026927-C-A

NM_000179.2(MSH6):c.1805C>A;(p.S602*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MSH6: 1805C>A; Ser602Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Mefatinib as first-line treatment of patients with advanced EGFR-mutant non-small-cell lung cancer: a phase Ib/II efficacy and biomarker study.

Signal Transduction And Targeted Therapy
Wang, Pingli P; Li, Yuping Y; Lv, Dongqing D; Yang, Lingge L; Ding, Liren L; Zhou, Jianya J; Hong, Wei W; Chen, Youfei Y; Zhang, Dongqing D; He, Susu S; Zhou, Jianying J; Wang, Kai K
Publication Date: 2021-11-01

Variant appearance in text: MSH6: S602*
PubMed Link: 34719670
Variant Present in the following documents:
  • 41392_2021_773_MOESM2_ESM.xlsx, sheet 2
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: 1805C>A; Ser602Ter
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.

The Oncologist
Hirshfield, Kim M KM; Tolkunov, Denis D; Zhong, Hua H; Ali, Siraj M SM; Stein, Mark N MN; Murphy, Susan S; Vig, Hetal H; Vazquez, Alexei A; Glod, John J; Moss, Rebecca A RA; Belyi, Vladimir V; Chan, Chang S CS; Chen, Suzie S; Goodell, Lauri L; Foran, David D; Yelensky, Roman R; Palma, Norma A NA; Sun, James X JX; Miller, Vincent A VA; Stephens, Philip J PJ; Ross, Jeffrey S JS; Kaufman, Howard H; Poplin, Elizabeth E; Mehnert, Janice J; Tan, Antoinette R AR; Bertino, Joseph R JR; Aisner, Joseph J; DiPaola, Robert S RS; Rodriguez-Rodriguez, Lorna L; Ganesan, Shridar S
Publication Date: 2016-11

Variant appearance in text: MSH6: S602*
PubMed Link: 27566247
Variant Present in the following documents:
  • supp_the2016-0049_Supplemental_Tables.pdf
View BVdb publication page