MLH1 c.808A>G ;(p.T270A)

Variant ID: 3-37059014-A-G

NM_000249.3(MLH1):c.808A>G;(p.T270A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular convergence and transgenic evidence suggest a single origin of laryngeal echolocation in bats.

Iscience
Liu, Zhen Z; Chen, Peng P; Xu, Dong-Ming DM; Qi, Fei-Yan FY; Guo, Yuan-Ting YT; Liu, Qi Q; Bai, Jing J; Zhou, Xin X; Shi, Peng P
Publication Date: 2022-04-15

Variant appearance in text: MLH1: T270A
PubMed Link: 35391832
Variant Present in the following documents:
  • mmc13.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: T270A
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



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MLH1: 808A>G; Thr270Ala; rs371302926
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 1
View BVdb publication page