MLH1 c.1753_1754delinsGC ;(p.L585A)

Variant ID: 3-37089031-CT-GC

NM_000249.3(MLH1):c.1753_1754delinsGC;(p.L585A)

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: L585A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.

Scientific Reports
Mur, Pilar P; Sánchez-Cuartielles, Elena E; Aussó, Susanna S; Aiza, Gemma G; Valdés-Mas, Rafael R; Pineda, Marta M; Navarro, Matilde M; Brunet, Joan J; Urioste, Miguel M; Lázaro, Conxi C; Moreno, Victor V; Capellá, Gabriel G; Puente, Xose S XS; Valle, Laura L
Publication Date: 2016-02-08

Variant appearance in text: MLH1: L585A
PubMed Link: 26852919
Variant Present in the following documents:
  • Main text
  • srep20697.pdf
View BVdb publication page