ATM c.608A>C ;(p.D203A)

Variant ID: 11-108114791-A-C

NM_000051.3(ATM):c.608A>C;(p.D203A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks.

Cell Discovery
Ling, Chen C; Huang, Jing J; Yan, Zhijiang Z; Li, Yongjiang Y; Ohzeki, Mioko M; Ishiai, Masamichi M; Xu, Dongyi D; Takata, Minoru M; Seidman, Michael M; Wang, Weidong W
Publication Date: 2016

Variant appearance in text: ATM: D203A
PubMed Link: 28058110
Variant Present in the following documents:
  • Main text
  • celldisc201647.pdf
View BVdb publication page



The BLM dissolvasome in DNA replication and repair.

Cellular And Molecular Life Sciences : Cmls
Manthei, Kelly A KA; Keck, James L JL
Publication Date: 2013-11

Variant appearance in text: ATM: D203A
PubMed Link: 23543275
Variant Present in the following documents:
  • Main text
View BVdb publication page