ATM c.112G>A ;(p.E38K)

Variant ID: 11-108098542-G-A

NM_000051.3(ATM):c.112G>A;(p.E38K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget
Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2020-04-07

Variant appearance in text: ATM: 112G>A; Glu38Lys
PubMed Link: 32292574
Variant Present in the following documents:
  • oncotarget-11-1244-s005.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ATM: E38K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-7.xlsx, sheet 1
View BVdb publication page



Specificity in suppression of SOS expression by recA4162 and uvrD303.

Dna Repair
Massoni, Shawn C SC; Sandler, Steven J SJ
Publication Date: 2013-12

Variant appearance in text: ATM: E38K
PubMed Link: 24084169
Variant Present in the following documents:
  • Main text
View BVdb publication page