MLH1 c.835G>A ;(p.V279M)

Variant ID: 3-37059041-G-A

NM_000249.3(MLH1):c.835G>A;(p.V279M)

This variant was identified in 5 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: V279M
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: MLH1: V279M
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: MLH1: V279M
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine
Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A
Publication Date: 2020

Variant appearance in text: MLH1: 835G>A; Val279Met
PubMed Link: 33083013
Variant Present in the following documents:
  • 41525_2020_150_MOESM1_ESM.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: MLH1: V279M
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s002.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HNPCC2: V279M
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page