MSH6 c.276A>C ;(p.P92=)

Variant ID: 2-48018081-A-C

NM_000179.2(MSH6):c.276A>C;(p.P92=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.

Journal Of Molecular Cell Biology
Varinelli, Luca L; Guaglio, Marcello M; Brich, Silvia S; Zanutto, Susanna S; Belfiore, Antonino A; Zanardi, Federica F; Iannelli, Fabio F; Oldani, Amanda A; Costa, Elisa E; Chighizola, Matteo M; Lorenc, Ewelina E; Minardi, Simone P SP; Fortuzzi, Stefano S; Filugelli, Martina M; Garzone, Giovanna G; Pisati, Federica F; Vecchi, Manuela M; Pruneri, Giancarlo G; Kusamura, Shigeki S; Baratti, Dario D; Cattaneo, Laura L; Parazzoli, Dario D; Podestà, Alessandro A; Milione, Massimo M; Deraco, Marcello M; Pierotti, Marco A MA; Gariboldi, Manuela M
Publication Date: 2022-12-02

Variant appearance in text: MSH6: P92P
PubMed Link: 36460033
Variant Present in the following documents:
  • mjac064_supplemental_file.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: MSH6: P92P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: MSH6: P92P
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Publication Date: 2018

Variant appearance in text: MSH6: P92P
PubMed Link: 29649263
Variant Present in the following documents:
  • pone.0195761.s005.xlsx, sheet 1
View BVdb publication page



Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.

Plos One
Picelli, Simone S; Lorenzo Bermejo, Justo J; Chang-Claude, Jenny J; Hoffmeister, Michael M; Fernández-Rozadilla, Ceres C; Carracedo, Angel A; Castells, Antoni A; Castellví-Bel, Sergi S; , ; Naccarati, Alessio A; Pardini, Barbara B; Vodickova, Ludmila L; Müller, Heiko H; Talseth-Palmer, Bente A BA; Stibbard, Geoffrey G; Peterlongo, Paolo P; Nici, Carmela C; Veneroni, Silvia S; Li, Li L; Casey, Graham G; Tenesa, Albert A; Farrington, Susan M SM; Tomlinson, Ian I; Moreno, Victor V; van Wezel, Tom T; Wijnen, Juul J; Dunlop, Malcolm M; Radice, Paolo P; Scott, Rodney J RJ; Vodicka, Pavel P; Ruiz-Ponte, Clara C; Brenner, Hermann H; Buch, Stephan S; Völzke, Henry H; Hampe, Jochen J; Schafmayer, Clemens C; Lindblom, Annika A
Publication Date: 2013

Variant appearance in text: MSH6: P92P
PubMed Link: 24039736
Variant Present in the following documents:
  • Main text
  • pone.0072091.pdf
View BVdb publication page