MLH1 c.1381A>G ;(p.K461E)

Variant ID: 3-37067470-A-G

NM_000249.3(MLH1):c.1381A>G;(p.K461E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: K461E
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



[High throughput sequencing for detection of 82 kinds of hematologic malignancy related gene mutations in patients with chronic myeloid leukemia resistant to tyrosine kinase inhibitors].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Zhao, H F HF; Zhang, Yanli Y; Lyu, X D XD; Guo, Z Z; Yang, J Y JY; Li, Z Z; Zu, Y L YL; Zhou, J J; Yu, F K FK; Song, Y P YP
Publication Date: 2019-10-14

Variant appearance in text: MLH1: 1381A>G; Lys461Glu
PubMed Link: 31775490
Variant Present in the following documents:
  • Main text
  • cjh-40-10-866.pdf
View BVdb publication page