BRAF c.1992+16G>A

Variant ID: 7-140449071-C-T

NM_004333.4(BRAF):c.1992+16G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.

Genome Biology
Thirunavukarasu, Deepak D; Cheng, Lauren Y LY; Song, Ping P; Chen, Sherry X SX; Borad, Mitesh J MJ; Kwong, Lawrence L; James, Phillip P; Turner, Daniel J DJ; Zhang, David Yu DY
Publication Date: 2021-09-06

Variant appearance in text: rs3789806
PubMed Link: 34482832
Variant Present in the following documents:
  • Main text
  • 13059_2021_Article_2449.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs3789806
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs3789806
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs3789806
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Multiplexed enrichment of rare DNA variants via sequence-selective and temperature-robust amplification.

Nature Biomedical Engineering
Wu, Lucia R LR; Chen, Sherry X SX; Wu, Yalei Y; Patel, Abhijit A AA; Zhang, David Yu DY
Publication Date: 2017

Variant appearance in text: rs3789806
PubMed Link: 29805844
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget
Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-01-31

Variant appearance in text: rs3789806
PubMed Link: 28002797
Variant Present in the following documents:
  • oncotarget-08-7852-s002.xlsx, sheet 16
  • oncotarget-08-7852-s002.xlsx, sheet 15
View BVdb publication page



The global spectrum of protein-coding pharmacogenomic diversity.

The Pharmacogenomics Journal
Wright, G E B GEB; Carleton, B B; Hayden, M R MR; Ross, C J D CJD
Publication Date: 2018-01

Variant appearance in text: rs3789806
PubMed Link: 27779249
Variant Present in the following documents:
  • Main text
  • tpj201677a.pdf
View BVdb publication page



MITF Modulates Therapeutic Resistance through EGFR Signaling.

The Journal Of Investigative Dermatology
Ji, Zhenyu Z; Erin Chen, Yiyin Y; Kumar, Raj R; Taylor, Michael M; Jenny Njauw, Ching-Ni CN; Miao, Benchun B; Frederick, Dennie T DT; Wargo, Jennifer A JA; Flaherty, Keith T KT; Jönsson, Göran G; Tsao, Hensin H
Publication Date: 2015-07

Variant appearance in text: rs3789806
PubMed Link: 25789707
Variant Present in the following documents:
  • NIHMS670893-supplement-01.pdf
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: rs3789806
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page