IDH1 c.379C>T ;(p.P127S)

Variant ID: 2-209113128-G-A

NM_005896.2(IDH1):c.379C>T;(p.P127S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: IDH1: P127S
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas.

Oncotarget
Helbig, Doris D; Quaas, Alexander A; Mauch, Cornelia C; Merkelbach-Bruse, Sabine S; Büttner, Reinhard R; Emberger, Michael M; Wobser, Marion M; Rüsseler, Vanessa V; Pütz, Katharina K; Binot, Elke E; Rehker, Jan J; Budczies, Jan J; Ihle, Michaela Angelika MA
Publication Date: 2017-12-12

Variant appearance in text: IDH1: 379C>T; P127S
PubMed Link: 29312620
Variant Present in the following documents:
  • Main text
  • oncotarget-08-109457.pdf
View BVdb publication page



Oncogene and therapeutic target analyses in atypical fibroxanthomas and pleomorphic dermal sarcomas.

Oncotarget
Helbig, Doris D; Ihle, Michaela Angelika MA; Pütz, Katharina K; Tantcheva-Poor, Iliana I; Mauch, Cornelia C; Büttner, Reinhard R; Quaas, Alexander A
Publication Date: 2016-04-19

Variant appearance in text: IDH1: P127S
PubMed Link: 26943575
Variant Present in the following documents:
  • Main text
  • oncotarget-07-21763.pdf
View BVdb publication page