CYP24A1 c.469C>A ;(p.R157=)

Variant ID: 20-52788190-G-T

NM_000782.4(CYP24A1):c.469C>A;(p.R157=)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Medrxiv : The Preprint Server For Health Sciences
Lewis, Morag A MA; Schulte, Jennifer J; Matthews, Lois L; Vaden, Kenneth I KI; Steves, Claire J CJ; Williams, Frances M K FMK; Schulte, Bradley A BA; Dubno, Judy R JR; Steel, Karen P KP
Publication Date: 2023-04-29

Variant appearance in text: rs35873579
PubMed Link: 37163093
Variant Present in the following documents:
  • nihpp-2023.04.27.23289040v1.pdf
View BVdb publication page



Identification of Novel Biomarkers for Drug Hypersensitivity After Sequencing of the Promoter Area in 16 Genes of the Vitamin D Pathway and the High-Affinity IgE Receptor.

Frontiers In Genetics
Amo, Gemma G; Martí, Manuel M; García-Menaya, Jesús M JM; Cordobés, Concepción C; Cornejo-García, José A JA; Blanca-López, Natalia N; Canto, Gabriela G; Doña, Inmaculada I; Blanca, Miguel M; Torres, María José MJ; Agúndez, José A G JAG; García-Martín, Elena E
Publication Date: 2019

Variant appearance in text: rs35873579
PubMed Link: 31293618
Variant Present in the following documents:
  • Main text
  • fgene-10-00582.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: CYP24A1: 469C>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
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: rs35873579
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Single-Nucleotide Polymorphisms in Vitamin D-Related Genes May Modify Vitamin D-Breast Cancer Associations.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
O'Brien, Katie M KM; Sandler, Dale P DP; Kinyamu, H Karimi HK; Taylor, Jack A JA; Weinberg, Clarice R CR
Publication Date: 2017-12

Variant appearance in text: rs35873579
PubMed Link: 28830874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1.

Bmc Ophthalmology
Al-Barry, Ma'an Abdullah MA; Albalawi, Alia M AM; Sayf, Mohammed Abu MA; Badawi, Abdulrahman A; Afzal, Sibtain S; Latif, Muhammad M; Samman, Mohammed I MI; Basit, Sulman S
Publication Date: 2016-10-04

Variant appearance in text: CYP24A1: 469C>A
PubMed Link: 27716192
Variant Present in the following documents:
  • Main text
  • 12886_2016_Article_354.pdf
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: CYP24A1: R157R; rs35873579
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CYP24A1: R157R; rs35873579
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page