ATM c.3214G>A ;(p.E1072K)

Variant ID: 11-108143509-G-A

NM_000051.3(ATM):c.3214G>A;(p.E1072K)

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: ATM: 3214G>A; E1072K
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Long-term disease control and survival observed after stereotactic ablative body radiotherapy for oligometastatic breast cancer.

Cancer Medicine
Wijetunga, N Ari NA; Dos Anjos, Carlos H CH; Zhi, W Iris WI; Robson, Mark M; Tsai, C Jillian CJ; Yamada, Yoshiya Y; Dover, Laura L; Gillespie, Erin F EF; Xu, Amy J AJ; Yang, Jonathan T JT
Publication Date: 2021-08

Variant appearance in text: ATM: 3214G>A; E1072K
PubMed Link: 34159748
Variant Present in the following documents:
  • CAM4-10-5163-s001.xlsx, sheet 8
View BVdb publication page



A Three-dimensional Ex Vivo Viability Assay Reveals a Strong Correlation Between Response to Targeted Inhibitors and Mutation Status in Melanoma Lymph Node Metastases.

Translational Oncology
Flørenes, Vivi Ann VA; Flem-Karlsen, Karine K; McFadden, Erin E; Bergheim, Inger Riise IR; Nygaard, Vigdis V; Nygård, Vegard V; Farstad, Inger Nina IN; Øy, Geir Frode GF; Emilsen, Elisabeth E; Giller-Fleten, Karianne K; Ree, Anne Hansen AH; Flatmark, Kjersti K; Gullestad, Hans Petter HP; Hermann, Robert R; Ryder, Truls T; Wernhoff, Patrik P; Mælandsmo, Gunhild Mari GM
Publication Date: 2019-07

Variant appearance in text: ATM: E1072K
PubMed Link: 31096111
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page