ABCC4 c.52C>T ;(p.L18F)

Variant ID: 13-95953517-G-A

NM_005845.3(ABCC4):c.52C>T;(p.L18F)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology
Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F
Publication Date: 2022-10-26

Variant appearance in text: rs11568681
PubMed Link: 36289370
Variant Present in the following documents:
  • 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: rs11568681
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: rs11568681
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
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: rs11568681
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Population-Specific Resequencing Associates the ATP-Binding Cassette Subfamily C Member 4 Gene With Gout in New Zealand Māori and Pacific Men.

Arthritis & Rheumatology (Hoboken, N.J.)
Tanner, Callum C; Boocock, James J; Stahl, Eli A EA; Dobbyn, Amanda A; Mandal, Asim K AK; Cadzow, Murray M; Phipps-Green, Amanda J AJ; Topless, Ruth K RK; Hindmarsh, Jennie Harré JH; Stamp, Lisa K LK; Dalbeth, Nicola N; Choi, Hyon K HK; Mount, David B DB; Merriman, Tony R TR
Publication Date: 2017-07

Variant appearance in text: rs11568681
PubMed Link: 28371506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: rs11568681
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: rs11568681
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs11568681
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page