MSH6 c.754T>G ;(p.S252A)

Variant ID: 2-48025876-T-G

NM_000179.2(MSH6):c.754T>G;(p.S252A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 754T>G; Ser252Ala; rs746623981
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MSH6: 754T>G; Ser252Ala; rs746623981
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 3
View BVdb publication page



The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: MSH6: 754T>G; Ser252Ala
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page



Phosphorylated hMSH6: DNA mismatch versus DNA damage recognition.

Mutation Research
Kaliyaperumal, Saravanan S; Patrick, Steve M SM; Williams, Kandace J KJ
Publication Date: 2011-01-10

Variant appearance in text: MSH6: S252A
PubMed Link: 21035467
Variant Present in the following documents:
  • Main text
View BVdb publication page