CES1 c.52+1G>A

Variant ID: 16-55866915-C-T

NM_001025195.1(CES1):c.52+1G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs139063675
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs139063675
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
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: rs139063675
PubMed Link: 34721006
Variant Present in the following documents:
  • datasheet1.pdf
View BVdb publication page



Targeted ultra-deep sequencing of a South African Bantu-speaking cohort to comprehensively map and characterize common and novel variants in 65 pharmacologically-related genes.

Pharmacogenetics And Genomics
Tshabalala, Sibongile S; Choudhury, Ananyo A; Beeton-Kempen, Natasha N; Martinson, Neil N; Ramsay, Michèle M; Mancama, Dalu D
Publication Date: 2019-09

Variant appearance in text: rs139063675
PubMed Link: 31162291
Variant Present in the following documents:
  • pgen-29-167.pdf
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: rs139063675
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page