MSH6 c.2315G>A ;(p.R772Q)

Variant ID: 2-48027437-G-A

NM_000179.2(MSH6):c.2315G>A;(p.R772Q)

This variant was identified in 9 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: 2315G>A; R772Q; rs63750725
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: R772Q
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: rs63750725
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: MSH6: R772Q
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: MSH6: 2315G>A; R772Q
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: MSH6: 2315G>A; Arg772Gln
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: MSH6: R772Q
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MSH6: R772Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Nature Genetics
Taylor, Jenny C JC; Martin, Hilary C HC; Lise, Stefano S; Broxholme, John J; Cazier, Jean-Baptiste JB; Rimmer, Andy A; Kanapin, Alexander A; Lunter, Gerton G; Fiddy, Simon S; Allan, Chris C; Aricescu, A Radu AR; Attar, Moustafa M; Babbs, Christian C; Becq, Jennifer J; Beeson, David D; Bento, Celeste C; Bignell, Patricia P; Blair, Edward E; Buckle, Veronica J VJ; Bull, Katherine K; Cais, Ondrej O; Cario, Holger H; Chapel, Helen H; Copley, Richard R RR; Cornall, Richard R; Craft, Jude J; Dahan, Karin K; Davenport, Emma E EE; Dendrou, Calliope C; Devuyst, Olivier O; Fenwick, Aimée L AL; Flint, Jonathan J; Fugger, Lars L; Gilbert, Rodney D RD; Goriely, Anne A; Green, Angie A; Greger, Ingo H IH; Grocock, Russell R; Gruszczyk, Anja V AV; Hastings, Robert R; Hatton, Edouard E; Higgs, Doug D; Hill, Adrian A; Holmes, Chris C; Howard, Malcolm M; Hughes, Linda L; Humburg, Peter P; Johnson, David D; Karpe, Fredrik F; Kingsbury, Zoya Z; Kini, Usha U; Knight, Julian C JC; Krohn, Jonathan J; Lamble, Sarah S; Langman, Craig C; Lonie, Lorne L; Luck, Joshua J; McCarthy, Davis D; McGowan, Simon J SJ; McMullin, Mary Frances MF; Miller, Kerry A KA; Murray, Lisa L; Németh, Andrea H AH; Nesbit, M Andrew MA; Nutt, David D; Ormondroyd, Elizabeth E; Oturai, Annette Bang AB; Pagnamenta, Alistair A; Patel, Smita Y SY; Percy, Melanie M; Petousi, Nayia N; Piazza, Paolo P; Piret, Sian E SE; Polanco-Echeverry, Guadalupe G; Popitsch, Niko N; Powrie, Fiona F; Pugh, Chris C; Quek, Lynn L; Robbins, Peter A PA; Robson, Kathryn K; Russo, Alexandra A; Sahgal, Natasha N; van Schouwenburg, Pauline A PA; Schuh, Anna A; Silverman, Earl E; Simmons, Alison A; Sørensen, Per Soelberg PS; Sweeney, Elizabeth E; Taylor, John J; Thakker, Rajesh V RV; Tomlinson, Ian I; Trebes, Amy A; Twigg, Stephen Rf SR; Uhlig, Holm H HH; Vyas, Paresh P; Vyse, Tim T; Wall, Steven A SA; Watkins, Hugh H; Whyte, Michael P MP; Witty, Lorna L; Wright, Ben B; Yau, Chris C; Buck, David D; Humphray, Sean S; Ratcliffe, Peter J PJ; Bell, John I JI; Wilkie, Andrew Om AO; Bentley, David D; Donnelly, Peter P; McVean, Gilean G
Publication Date: 2015-07

Variant appearance in text: MSH6: R772Q
PubMed Link: 25985138
Variant Present in the following documents:
  • Main text
  • emss-63135.pdf
  • NIHMS63135-supplement-1.pdf
View BVdb publication page