IDH1 c.112G>A ;(p.D38N)

Variant ID: 2-209116164-C-T

NM_005896.2(IDH1):c.112G>A;(p.D38N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Targeted next-generation sequencing of 565 neuro-oncology patients at UCLA: A single-institution experience.

Neuro-Oncology Advances
Ji, Matthew S MS; Eldred, Blaine S C BSC; Liu, Regina R; Pianka, Sean T ST; Molaie, Donna D; Kevan, Bryan B; Pan, Stephanie S; Lai, Thomas J TJ; Nguyen, Nhung T NT; Chow, Frances E FE; Yong, William H WH; Cox, Christopher D CD; Reeh, Devin N DN; Li, Tie T; Liau, Linda M LM; Nghiemphu, Phioanh L PL; Cloughesy, Timothy F TF; Li, Gang G; Lai, Albert A
Publication Date: 2020

Variant appearance in text: IDH1: D38N
PubMed Link: 32118206
Variant Present in the following documents:
  • Main text
  • vdaa009.pdf
View BVdb publication page



Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: IDH1: 112G>A; D38N
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: IDH1: D38N; rs374907791
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: IDH1: 112G>A; D38N
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page