ABCB4 c.1071T>G ;(p.F357L)

Variant ID: 7-87074226-A-C

NM_000443.3(ABCB4):c.1071T>G;(p.F357L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Neuronal differentiation and cell-cycle programs mediate response to BET-bromodomain inhibition in MYC-driven medulloblastoma.

Nature Communications
Bandopadhayay, Pratiti P; Piccioni, Federica F; O'Rourke, Ryan R; Ho, Patricia P; Gonzalez, Elizabeth M EM; Buchan, Graham G; Qian, Kenin K; Gionet, Gabrielle G; Girard, Emily E; Coxon, Margo M; Rees, Matthew G MG; Brenan, Lisa L; Dubois, Frank F; Shapira, Ofer O; Greenwald, Noah F NF; Pages, Melanie M; Balboni Iniguez, Amanda A; Paolella, Brenton R BR; Meng, Alice A; Sinai, Claire C; Roti, Giovanni G; Dharia, Neekesh V NV; Creech, Amanda A; Tanenbaum, Benjamin B; Khadka, Prasidda P; Tracy, Adam A; Tiv, Hong L HL; Hong, Andrew L AL; Coy, Shannon S; Rashid, Rumana R; Lin, Jia-Ren JR; Cowley, Glenn S GS; Lam, Fred C FC; Goodale, Amy A; Lee, Yenarae Y; Schoolcraft, Kathleen K; Vazquez, Francisca F; Hahn, William C WC; Tsherniak, Aviad A; Bradner, James E JE; Yaffe, Michael B MB; Milde, Till T; Pfister, Stefan M SM; Qi, Jun J; Schenone, Monica M; Carr, Steven A SA; Ligon, Keith L KL; Kieran, Mark W MW; Santagata, Sandro S; Olson, James M JM; Gokhale, Prafulla C PC; Jaffe, Jacob D JD; Root, David E DE; Stegmaier, Kimberly K; Johannessen, Cory M CM; Beroukhim, Rameen R
Publication Date: 2019-06-03

Variant appearance in text: PFIC-3: 1071T>G
PubMed Link: 31160565
Variant Present in the following documents:
  • 41467_2019_10307_MOESM8_ESM.xlsx, sheet 21
View BVdb publication page



An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal
Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM
Publication Date: 2019-04

Variant appearance in text: ABCB4: F357L
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.

Scientific Reports
Park, Hyo Jin HJ; Kim, Tae Hee TH; Kim, So Won SW; Noh, Shin Hye SH; Cho, Kyeong Jee KJ; Choi, Choe C; Kwon, Eun Young EY; Choi, Yang Ji YJ; Gee, Heon Yung HY; Choi, Ji Ha JH
Publication Date: 2016-06-03

Variant appearance in text: ABCB4: F357L
PubMed Link: 27256251
Variant Present in the following documents:
  • srep26872-s1.pdf
View BVdb publication page