MSH6 c.2893_2895delinsTGT ;(p.R965C)

Variant ID: 2-48028015-AGG-TGT

NM_000179.2(MSH6):c.2893_2895delinsTGT;(p.R965C)

This variant was identified in 3 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: MSH6: R965C
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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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: R965C
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The genetic landscape of choroid plexus tumors in children and adults.

Neuro-Oncology
Thomas, Christian C; Soschinski, Patrick P; Zwaig, Melissa M; Oikonomopoulos, Spyridon S; Okonechnikov, Konstantin K; Pajtler, Kristian W KW; Sill, Martin M; Schweizer, Leonille L; Koch, Arend A; Neumann, Julia J; Schüller, Ulrich U; Sahm, Felix F; Rauschenbach, Laurèl L; Keyvani, Kathy K; Proescholdt, Martin M; Riemenschneider, Markus J MJ; Segewiß, Jochen J; Ruckert, Christian C; Grauer, Oliver O; Monoranu, Camelia-Maria CM; Lamszus, Katrin K; Patrizi, Annarita A; Kordes, Uwe U; Siebert, Reiner R; Kool, Marcel M; Ragoussis, Jiannis J; Foulkes, William D WD; Paulus, Werner W; Rivera, Barbara B; Hasselblatt, Martin M
Publication Date: 2021-04-12

Variant appearance in text: MSH6: R965C
PubMed Link: 33249490
Variant Present in the following documents:
  • Main text
View BVdb publication page