BCLAF1 c.1993C>G ;(p.H665D)

Variant ID: 6-136593183-G-C

NM_014739.2(BCLAF1):c.1993C>G;(p.H665D)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: BCLAF1: H665D; rs73558557
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



2-kupl: mapping-free variant detection from DNA-seq data of matched samples.

Bmc Bioinformatics
Wang, Yunfeng Y; Xue, Haoliang H; Pourcel, Christine C; Du, Yang Y; Gautheret, Daniel D
Publication Date: 2021-06-05

Variant appearance in text: BCLAF1: H665D
PubMed Link: 34090332
Variant Present in the following documents:
  • 12859_2021_4185_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs73558557
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
View BVdb publication page



Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Clinical Sarcoma Research
Heinrich, Michael C MC; Patterson, Janice J; Beadling, Carol C; Wang, Yuexiang Y; Debiec-Rychter, Maria M; Dewaele, Barbara B; Corless, Christopher L CL; Duensing, Anette A; Raut, Chandrajit P CP; Rubin, Brian B; Ordog, Tamas T; van de Rijn, Matt M; Call, Jerry J; Mühlenberg, Thomas T; Fletcher, Jonathan A JA; Bauer, Sebastian S
Publication Date: 2019

Variant appearance in text: BCLAF1: 1993C>G; H665D; rs73558557
PubMed Link: 30867899
Variant Present in the following documents:
  • 13569_2019_112_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas.

Nature Communications
Rosenberg, Shai S; Simeonova, Iva I; Bielle, Franck F; Verreault, Maite M; Bance, Bertille B; Le Roux, Isabelle I; Daniau, Mailys M; Nadaradjane, Arun A; Gleize, Vincent V; Paris, Sophie S; Marie, Yannick Y; Giry, Marine M; Polivka, Marc M; Figarella-Branger, Dominique D; Aubriot-Lorton, Marie-Hélène MH; Villa, Chiara C; Vasiljevic, Alexandre A; Lechapt-Zalcman, Emmanuèle E; Kalamarides, Michel M; Sharif, Ariane A; Mokhtari, Karima K; Pagnotta, Stefano Maria SM; Iavarone, Antonio A; Lasorella, Anna A; Huillard, Emmanuelle E; Sanson, Marc M
Publication Date: 2018-06-18

Variant appearance in text: BCLAF1: H665D
PubMed Link: 29915258
Variant Present in the following documents:
  • 41467_2018_4622_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: BCLAF1: 1993C>G; H665D; rs73558557
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.

Plos One
Barøy, Tale T; Chilamakuri, Chandra S R CS; Lorenz, Susanne S; Sun, Jinchang J; Bruland, Øyvind S ØS; Myklebost, Ola O; Meza-Zepeda, Leonardo A LA
Publication Date: 2016

Variant appearance in text: BCLAF1: H665D; rs73558557
PubMed Link: 27685995
Variant Present in the following documents:
  • pone.0163859.s005.xlsx, sheet 1
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: BCLAF1: H665D
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s2.xlsx, sheet 6
View BVdb publication page