ATM c.1862A>G ;(p.K621R)

Variant ID: 11-108123603-A-G

NM_000051.3(ATM):c.1862A>G;(p.K621R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comparative analyses of aging-related genes in long-lived mammals provide insights into natural longevity.

Innovation (Cambridge (Mass.))
Yu, Zhenpeng Z; Seim, Inge I; Yin, Mengxin M; Tian, Ran R; Sun, Di D; Ren, Wenhua W; Yang, Guang G; Xu, Shixia S
Publication Date: 2021-05-28

Variant appearance in text: ATM: K621R
PubMed Link: 34557758
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analyses of aging-related genes in long-lived mammals provide insights into natural longevity.

Innovation (New York, N.Y.)
Yu, Zhenpeng Z; Seim, Inge I; Yin, Mengxin M; Tian, Ran R; Sun, Di D; Ren, Wenhua W; Yang, Guang G; Xu, Shixia S
Publication Date: 2021-05-28

Variant appearance in text: ATM: K621R
PubMed Link: 34557758
Variant Present in the following documents:
  • Main text
View BVdb publication page



Giant tortoise genomes provide insights into longevity and age-related disease.

Nature Ecology & Evolution
Quesada, Víctor V; Freitas-Rodríguez, Sandra S; Miller, Joshua J; Pérez-Silva, José G JG; Jiang, Zi-Feng ZF; Tapia, Washington W; Santiago-Fernández, Olaya O; Campos-Iglesias, Diana D; Kuderna, Lukas F K LFK; Quinzin, Maud M; Álvarez, Miguel G MG; Carrero, Dido D; Beheregaray, Luciano B LB; Gibbs, James P JP; Chiari, Ylenia Y; Glaberman, Scott S; Ciofi, Claudio C; Araujo-Voces, Miguel M; Mayoral, Pablo P; Arango, Javier R JR; Tamargo-Gómez, Isaac I; Roiz-Valle, David D; Pascual-Torner, María M; Evans, Benjamin R BR; Edwards, Danielle L DL; Garrick, Ryan C RC; Russello, Michael A MA; Poulakakis, Nikos N; Gaughran, Stephen J SJ; Rueda, Danny O DO; Bretones, Gabriel G; Marquès-Bonet, Tomàs T; White, Kevin P KP; Caccone, Adalgisa A; López-Otín, Carlos C
Publication Date: 2019-01

Variant appearance in text: ATM: K621R
PubMed Link: 30510174
Variant Present in the following documents:
  • NIHMS80309-supplement-1.pdf
View BVdb publication page



SUMO E3 ligase Mms21 prevents spontaneous DNA damage induced genome rearrangements.

Plos Genetics
Liang, Jason J; Li, Bin-Zhong BZ; Tan, Alexander P AP; Kolodner, Richard D RD; Putnam, Christopher D CD; Zhou, Huilin H
Publication Date: 2018-03

Variant appearance in text: TEL1: K621R
PubMed Link: 29505562
Variant Present in the following documents:
  • pgen.1007250.pdf
View BVdb publication page



Smc5/6 complex regulates Sgs1 recombination functions.

Current Genetics
Bermúdez-López, Marcelino M; Aragon, Luis L
Publication Date: 2017-06

Variant appearance in text: ATM: K621R
PubMed Link: 27664093
Variant Present in the following documents:
  • Main text
  • 294_2016_Article_648.pdf
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: ATM: K621R
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page