ABCB4 c.1769G>C ;(p.R590P)

Variant ID: 7-87060844-C-G

NM_000443.3(ABCB4):c.1769G>C;(p.R590P)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits.

Psychiatric Genetics
Castellini, Giovanni G; Merola, Giuseppe Pierpaolo GP; Baccaredda, Ottone Boy OB; Pecoraro, Vincenzo V; Bozza, Bernardo B; Cassioli, Emanuele E; Rossi, Eleonora E; Bessi, Valentina V; Sorbi, Sandro S; Nacmias, Benedetta B; Ricca, Valdo V
Publication Date: 2022-12-20

Variant appearance in text: rs45575636
PubMed Link: 36729042
Variant Present in the following documents:
  • Main text
  • pg-33-79.pdf
View BVdb publication page



The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology
da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S
Publication Date: 2021

Variant appearance in text: rs45575636
PubMed Link: 34721006
Variant Present in the following documents:
  • datasheet1.pdf
View BVdb publication page



The Role of Gallstones in Gallbladder Cancer in India: A Mendelian Randomization Study.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Mhatre, Sharayu S; Richmond, Rebecca C RC; Chatterjee, Nilanjan N; Rajaraman, Preetha P; Wang, Zhaoming Z; Zhang, Haoyu H; Badwe, Rajendra R; Goel, Mahesh M; Patkar, Shraddha S; Shrikhande, Shailesh V SV; Patil, Prachi S PS; Davey Smith, George G; Relton, Caroline L CL; Dikshit, Rajesh P RP
Publication Date: 2021-02

Variant appearance in text: rs45575636
PubMed Link: 33187967
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs45575636
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.

Scientific Reports
Dixon, Peter H PH; Sambrotta, Melissa M; Chambers, Jennifer J; Taylor-Harris, Pamela P; Syngelaki, Argyro A; Nicolaides, Kypros K; Knisely, A S AS; Thompson, Richard J RJ; Williamson, Catherine C
Publication Date: 2017-09-18

Variant appearance in text: rs45575636
PubMed Link: 28924228
Variant Present in the following documents:
  • 41598_2017_Article_11626.pdf
View BVdb publication page



A whole genome analyses of genetic variants in two Kelantan Malay individuals.

The Hugo Journal
Wan Juhari, Wan Khairunnisa WK; Md Tamrin, Nur Aida NA; Mat Daud, Mohd Hanif Ridzuan MH; Isa, Hatin Wan HW; Mohd Nasir, Nurfazreen N; Maran, Sathiya S; Abdul Rajab, Nur Shafawati NS; Ahmad Amin Noordin, Khairul Bariah KB; Nik Hassan, Nik Norliza NN; Tearle, Rick R; Razali, Rozaimi R; Merican, Amir Feisal AF; Zilfalil, Bin Alwi BA
Publication Date: 2014-12

Variant appearance in text: rs45575636
PubMed Link: 27090252
Variant Present in the following documents:
  • Main text
  • 11568_2014_Article_4.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs45575636
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page