MLH1 c.755C>T ;(p.S252L)

Variant ID: 3-37056000-C-T

NM_000249.3(MLH1):c.755C>T;(p.S252L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: MLH1: 755C>T; Ser252Leu
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: HNPCC2: S252L
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer
Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA
Publication Date: 2017-07-06

Variant appearance in text: rs63750198
PubMed Link: 28683746
Variant Present in the following documents:
  • 12943_2017_691_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Cancer Medicine
Muller, Etienne E; Brault, Baptiste B; Holmes, Allyson A; Legros, Angelina A; Jeannot, Emmanuelle E; Campitelli, Maura M; Rousselin, Antoine A; Goardon, Nicolas N; Frébourg, Thierry T; Krieger, Sophie S; Crouet, Hubert H; Nicolas, Alain A; Sastre, Xavier X; Vaur, Dominique D; Castéra, Laurent L
Publication Date: 2015-10

Variant appearance in text: MLH1: 755C>T
PubMed Link: 26155992
Variant Present in the following documents:
  • Main text
View BVdb publication page