MLH1 c.453+2T>C

Variant ID: 3-37048556-T-C

NM_000249.3(MLH1):c.453+2T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MLH1: 453+2T>C
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: MLH1: 453+2T>C
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 3
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Implication of DNA repair genes in Lynch-like syndrome.

Familial Cancer
Xicola, Rosa M RM; Clark, Julia R JR; Carroll, Timothy T; Alvikas, Jurgis J; Marwaha, Priti P; Regan, Maureen R MR; Lopez-Giraldez, Francesc F; Choi, Jungmin J; Emmadi, Rajyasree R; Alagiozian-Angelova, Victoria V; Kupfer, Sonia S SS; Ellis, Nathan A NA; Llor, Xavier X
Publication Date: 2019-07

Variant appearance in text: rs267607751
PubMed Link: 30989425
Variant Present in the following documents:
  • Main text
View BVdb publication page