ATM c.550_551delinsGC ;(p.R184A)

Variant ID: 11-108114733-AG-GC

NM_000051.3(ATM):c.550_551delinsGC;(p.R184A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functional and structural insights into the MRX/MRN complex, a key player in recognition and repair of DNA double-strand breaks.

Computational And Structural Biotechnology Journal
Tisi, Renata R; Vertemara, Jacopo J; Zampella, Giuseppe G; Longhese, Maria Pia MP
Publication Date: 2020

Variant appearance in text: ATM: R184A
PubMed Link: 32489527
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



DNA end recognition by the Mre11 nuclease dimer: insights into resection and repair of damaged DNA.

The Embo Journal
Sung, Sihyun S; Li, Fuyang F; Park, Young Bong YB; Kim, Jin Seok JS; Kim, Ae-Kyoung AK; Song, Ok-Kyu OK; Kim, Jiae J; Che, Jun J; Lee, Sang Eun SE; Cho, Yunje Y
Publication Date: 2014-10-16

Variant appearance in text: ATM: R184A
PubMed Link: 25107472
Variant Present in the following documents:
  • Main text
View BVdb publication page