MLH1 c.1489_1490delinsAA ;(p.R497K)

Variant ID: 3-37070354-CG-AA

NM_000249.3(MLH1):c.1489_1490delinsAA;(p.R497K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: MLH1: R497K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer.

Molecular Oncology
Malgerud, Linnéa L; Lindberg, Johan J; Wirta, Valtteri V; Gustafsson-Liljefors, Maria M; Karimi, Masoud M; Moro, Carlos Fernández CF; Stecker, Katrin K; Picker, Alexander A; Huelsewig, Carolin C; Stein, Martin M; Bohnert, Regina R; Del Chiaro, Marco M; Haas, Stephan L SL; Heuchel, Rainer L RL; Permert, Johan J; Maeurer, Markus J MJ; Brock, Stephan S; Verbeke, Caroline S CS; Engstrand, Lars L; Jackson, David B DB; Grönberg, Henrik H; Löhr, Johannes Matthias JM
Publication Date: 2017-10

Variant appearance in text: MLH1: R497K
PubMed Link: 28675654
Variant Present in the following documents:
  • MOL2-11-1413-s002.xlsx, sheet 1
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: MLH1: R497K
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page