MLH1 c.40_42delinsGAC ;(p.T14D)

Variant ID: 3-37035078-ACA-GAC

NM_000249.3(MLH1):c.40_42delinsGAC;(p.T14D)

This variant was identified in 3 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: T14D
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



The Arabidopsis Cdk1/Cdk2 homolog CDKA;1 controls chromosome axis assembly during plant meiosis.

The Embo Journal
Yang, Chao C; Sofroni, Kostika K; Wijnker, Erik E; Hamamura, Yuki Y; Carstens, Lena L; Harashima, Hirofumi H; Stolze, Sara Christina SC; Vezon, Daniel D; Chelysheva, Liudmila L; Orban-Nemeth, Zsuzsanna Z; Pochon, Gaëtan G; Nakagami, Hirofumi H; Schlögelhofer, Peter P; Grelon, Mathilde M; Schnittger, Arp A
Publication Date: 2020-02-03

Variant appearance in text: MLH1: T14D
PubMed Link: 31556459
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Cdk1/Cdk2 homolog CDKA;1 controls the recombination landscape in Arabidopsis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wijnker, Erik E; Harashima, Hirofumi H; Müller, Katja K; Parra-Nuñez, Pablo P; de Snoo, C Bastiaan CB; van de Belt, Jose J; Dissmeyer, Nico N; Bayer, Martin M; Pradillo, Monica M; Schnittger, Arp A
Publication Date: 2019-06-18

Variant appearance in text: MLH1: T14D
PubMed Link: 31164422
Variant Present in the following documents:
  • Main text
View BVdb publication page