DOT1L c.3179C>T ;(p.P1060L)

Variant ID: 19-2222347-C-T

NM_032482.2(DOT1L):c.3179C>T;(p.P1060L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Case Report: Molecular Characterization of Aggressive Malignant Retroperitoneal Solitary Fibrous Tumor: A Case Study.

Frontiers In Oncology
Nonaka, Haruna H; Kandori, Shuya S; Nitta, Satoshi S; Shiga, Masanobu M; Nagumo, Yoshiyuki Y; Kimura, Tomokazu T; Kawahara, Takashi T; Negoro, Hiromitsu H; Hoshi, Akio A; Kojima, Takahiro T; Kawai, Koji K; Mathis, Bryan J BJ; Tamura, Takuro T; Sato, Taka-Aki TA; Yamato, Mariko M; Noguchi, Masayuki M; Nishiyama, Hiroyuki H
Publication Date: 2021

Variant appearance in text: DOT1L: Pro1060Leu
PubMed Link: 35004271
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: DOT1L: 3179C>T; P1060L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: DOT1L: 3179C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page