MSH6 c.3655_3656delinsGA ;(p.T1219D)

Variant ID: 2-48033351-AC-GA

NM_000179.2(MSH6):c.3655_3656delinsGA;(p.T1219D)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Expression differences between proteins responsible for DNA damage repair according to the Gleason grade as a new heterogeneity marker in prostate cancer.

Archives Of Medical Science : Ams
Jaworski, Damian D; Gzil, Arkadiusz A; Antosik, Paulina P; Zarębska, Izabela I; Dominiak, Joanna J; Neska-Długosz, Izabela I; Kasperska, Anna A; Grzanka, Dariusz D; Szylberg, Łukasz Ł
Publication Date: 2023

Variant appearance in text: MSH6: T1219D
PubMed Link: 37034507
Variant Present in the following documents:
  • AMS-19-2-111514.pdf
View BVdb publication page



Comprehensive Genomic Profiling for Therapeutic Decision and Identification of Gene Mutation in Uterine Endometrial Dedifferentiated Carcinoma.

Case Reports In Oncology
Taira, Yusuke Y; Shimoji, Yuko Y; Arakaki, Yoshihisa Y; Nakamoto, Tomoko T; Kudaka, Wataru W; Aoki, Yoichi Y
Publication Date: 2022

Variant appearance in text: MSH6: T1219D
PubMed Link: 35350800
Variant Present in the following documents:
  • cro-0015-0046.pdf
View BVdb publication page



Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences
Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO
Publication Date: 2021-08-11

Variant appearance in text: MSH6: Thr1219Asp
PubMed Link: 34445333
Variant Present in the following documents:
  • Main text
  • ijms-22-08627.pdf
View BVdb publication page



Mispair-bound human MutS-MutL complex triggers DNA incisions and activates mismatch repair.

Cell Research
Ortega, Janice J; Lee, Grace Sanghee GS; Gu, Liya L; Yang, Wei W; Li, Guo-Min GM
Publication Date: 2021-05

Variant appearance in text: MSH6: T1219D
PubMed Link: 33510387
Variant Present in the following documents:
  • Main text
  • 41422_2021_Article_468.pdf
View BVdb publication page



Mispair-bound human MutS-MutL complex triggers DNA incisions and activates mismatch repair.

Cell Research
Ortega, Janice J; Lee, Grace Sanghee GS; Gu, Liya L; Yang, Wei W; Li, Guo-Min GM
Publication Date: 2021-05

Variant appearance in text: MSH6: T1219D
PubMed Link: 33510387
Variant Present in the following documents:
  • Main text
  • 41422_2021_Article_468.pdf
View BVdb publication page



Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Plos Genetics
Houlleberghs, Hellen H; Goverde, Anne A; Lusseveld, Jarnick J; Dekker, Marleen M; Bruno, Marco J MJ; Menko, Fred H FH; Mensenkamp, Arjen R AR; Spaander, Manon C W MCW; Wagner, Anja A; Hofstra, Robert M W RMW; Te Riele, Hein H
Publication Date: 2017-05

Variant appearance in text: MSH6: T1219D
PubMed Link: 28531214
Variant Present in the following documents:
  • Main text
  • pgen.1006765.pdf
View BVdb publication page



Role of mismatch repair proteins in the processing of cisplatin interstrand cross-links.

Dna Repair
Sawant, Akshada A; Kothandapani, Anbarasi A; Zhitkovich, Anatoly A; Sobol, Robert W RW; Patrick, Steve M SM
Publication Date: 2015-11

Variant appearance in text: MSH6: T1219D
PubMed Link: 26519826
Variant Present in the following documents:
  • Main text
View BVdb publication page



The dual nature of mismatch repair as antimutator and mutator: for better or for worse.

Frontiers In Genetics
Bak, Sara Thornby ST; Sakellariou, Despoina D; Pena-Diaz, Javier J
Publication Date: 2014

Variant appearance in text: MSH6: T1219D
PubMed Link: 25191341
Variant Present in the following documents:
  • fgene-05-00287.pdf
View BVdb publication page



Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D).

The Journal Of Biological Chemistry
Geng, Hui H; Sakato, Miho M; DeRocco, Vanessa V; Yamane, Kazuhiko K; Du, Chunwei C; Erie, Dorothy A DA; Hingorani, Manju M; Hsieh, Peggy P
Publication Date: 2012-03-23

Variant appearance in text: MSH6: T1219D
PubMed Link: 22277660
Variant Present in the following documents:
  • Main text
View BVdb publication page