MLH1 c.159G>C ;(p.E53D)

Variant ID: 3-37038152-G-C

NM_000249.3(MLH1):c.159G>C;(p.E53D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: MLH1: E53D
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MLH1: E53D
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Cytolytic activity correlates with the mutational burden and deregulated expression of immune checkpoints in colorectal cancer.

Journal Of Experimental & Clinical Cancer Research : Cr
Zaravinos, Apostolos A; Roufas, Constantinos C; Nagara, Majdi M; de Lucas Moreno, Beatriz B; Oblovatskaya, Maria M; Efstathiades, Christodoulos C; Dimopoulos, Christos C; Ayiomamitis, Georgios D GD
Publication Date: 2019-08-20

Variant appearance in text: MLH1: 159G>C; E53D
PubMed Link: 31429779
Variant Present in the following documents:
  • 13046_2019_1372_MOESM18_ESM.xlsx, sheet 1
View BVdb publication page



Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.

Human Molecular Genetics
Velho, Sérgia S; Oliveira, Carla C; Paredes, Joana J; Sousa, Sónia S; Leite, Marina M; Matos, Paulo P; Milanezi, Fernanda F; Ribeiro, Ana Sofia AS; Mendes, Nuno N; Licastro, Danilo D; Karhu, Auli A; Oliveira, Maria José MJ; Ligtenberg, Marjolijn M; Hamelin, Richard R; Carneiro, Fátima F; Lindblom, Annika A; Peltomaki, Paivi P; Castedo, Sérgio S; Schwartz, Simó S; Jordan, Peter P; Aaltonen, Lauri A LA; Hofstra, Robert M W RM; Suriano, Gianpaolo G; Stupka, Elia E; Fialho, Arsenio M AM; Seruca, Raquel R
Publication Date: 2010-02-15

Variant appearance in text: MLH1: E53D
PubMed Link: 19955118
Variant Present in the following documents:
  • Main text
View BVdb publication page