SI c.1812C>A ;(p.D604E)

Variant ID: 3-164764704-G-T

NM_001041.3(SI):c.1812C>A;(p.D604E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: SI: D604E
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
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Structure-function analysis of human sucrase-isomaltase identifies key residues required for catalytic activity.

The Journal Of Biological Chemistry
Gericke, Birthe B; Schecker, Natalie N; Amiri, Mahdi M; Naim, Hassan Y HY
Publication Date: 2017-06-30

Variant appearance in text: SI: D604E
PubMed Link: 28522605
Variant Present in the following documents:
  • Main text
View BVdb publication page