IDH1 c.284C>G ;(p.P95R)

Variant ID: 2-209113223-G-C

NM_005896.2(IDH1):c.284C>G;(p.P95R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clonal hematopoiesis is associated with increased risk of progression of asymptomatic Waldenström macroglobulinemia.

Blood Advances
Tahri, Sabrin S; Mouhieddine, Tarek H TH; Redd, Robert R; Lampe, Luisa L; Nilsson, Katarina I KI; El-Khoury, Habib H; Su, Nang Kham NK; Nassar, Amin H AH; Adib, Elio E; Bindra, Govind G; Abou Alaiwi, Sarah S; Trippa, Lorenzo L; Steensma, David P DP; Castillo, Jorge J JJ; Treon, Steven P SP; Ghobrial, Irene M IM; Sperling, Adam S AS
Publication Date: 2022-04-12

Variant appearance in text: IDH1: 284C>G; P95R
PubMed Link: 34847227
Variant Present in the following documents:
  • advancesADV2021004926-suppl1.pdf
View BVdb publication page



Dactinomycin induces complete remission associated with nucleolar stress response in relapsed/refractory NPM1-mutated AML.

Leukemia
Gionfriddo, Ilaria I; Brunetti, Lorenzo L; Mezzasoma, Federica F; Milano, Francesca F; Cardinali, Valeria V; Ranieri, Roberta R; Venanzi, Alessandra A; Pierangeli, Sara S; Vetro, Calogero C; Spinozzi, Giulio G; Dorillo, Erica E; Wu, Hsin Chieh HC; Berthier, Caroline C; Ciurnelli, Raffaella R; Griffin, Melanie J MJ; Jennings, Claire E CE; Tiacci, Enrico E; Sportoletti, Paolo P; Falzetti, Franca F; de Thé, Hugues H; Veal, Gareth J GJ; Martelli, Maria Paola MP; Falini, Brunangelo B
Publication Date: 2021-09

Variant appearance in text: IDH1: Pro95Arg
PubMed Link: 33654209
Variant Present in the following documents:
  • Main text
  • 41375_2021_Article_1192.pdf
View BVdb publication page



Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis.

Cell Reports
McKerrell, Thomas T; Park, Naomi N; Moreno, Thaidy T; Grove, Carolyn S CS; Ponstingl, Hannes H; Stephens, Jonathan J; , ; Crawley, Charles C; Craig, Jenny J; Scott, Mike A MA; Hodkinson, Clare C; Baxter, Joanna J; Rad, Roland R; Forsyth, Duncan R DR; Quail, Michael A MA; Zeggini, Eleftheria E; Ouwehand, Willem W; Varela, Ignacio I; Vassiliou, George S GS
Publication Date: 2015-03-03

Variant appearance in text: IDH1: P95R
PubMed Link: 25732814
Variant Present in the following documents:
  • mmc2.pdf
  • main.pdf
View BVdb publication page