MLH1 c.59_60delinsAC ;(p.A20D)

Variant ID: 3-37035097-CG-AC

NM_000249.3(MLH1):c.59_60delinsAC;(p.A20D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: MLH1: A20D
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 6
View BVdb publication page



Mlh1 deficiency increases the risk of hematopoietic malignancy after simulated space radiation exposure.

Leukemia
Patel, Rutulkumar R; Zhang, Luchang L; Desai, Amar A; Hoenerhoff, Mark J MJ; Kennedy, Lucy H LH; Radivoyevitch, Tomas T; Ban, Yuguang Y; Chen, Xi Steven XS; Gerson, Stanton L SL; Welford, Scott M SM
Publication Date: 2019-05

Variant appearance in text: MLH1: A20D
PubMed Link: 30275527
Variant Present in the following documents:
  • Main text
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: MLH1: A20D
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: MLH1: A20D
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page