ATM c.64G>A ;(p.E22K)

Variant ID: 11-108098415-G-A

NM_000051.3(ATM):c.64G>A;(p.E22K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Blood
Ansari-Pour, Naser N; Samur, Mehmet K MK; Flynt, Erin E; Gooding, Sarah S; Towfic, Fadi F; Stong, Nicholas N; Ortiz Estevez, Maria M; Mavrommatis, Konstantinos K; Walker, Brian A BA; Morgan, Gareth J GJ; Munshi, Nikhil C NC; Avet Loiseau, Herve H; Thakurta, Anjan A
Publication Date: 2022-10-12

Variant appearance in text: ATM: E22K
PubMed Link: 36223594
Variant Present in the following documents:
  • BLOOD_BLD-2022-017010-mmc2.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ATM: E22K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Publication Date: 2015-09-24

Variant appearance in text: ATM: E22K
PubMed Link: 26388441
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Amyloid β-Protein Assembly: Differential Effects of the Protective A2T Mutation and Recessive A2V Familial Alzheimer's Disease Mutation.

Acs Chemical Neuroscience
Zheng, Xueyun X; Liu, Deyu D; Roychaudhuri, Robin R; Teplow, David B DB; Bowers, Michael T MT
Publication Date: 2015-10-21

Variant appearance in text: ATD: E22K
PubMed Link: 26244608
Variant Present in the following documents:
  • Main text
View BVdb publication page



Amyloid beta-protein: experiment and theory on the 21-30 fragment.

The Journal Of Physical Chemistry. B
Murray, Megan M MM; Krone, Mary Griffin MG; Bernstein, Summer L SL; Baumketner, Andrij A; Condron, Margaret M MM; Lazo, Noel D ND; Teplow, David B DB; Wyttenbach, Thomas T; Shea, Joan-Emma JE; Bowers, Michael T MT
Publication Date: 2009-04-30

Variant appearance in text: ATD: E22K
PubMed Link: 19341254
Variant Present in the following documents:
  • Main text
View BVdb publication page