CYP24A1 c.470G>C ;(p.R157P)

Variant ID: 20-52788189-C-G

NM_000782.4(CYP24A1):c.470G>C;(p.R157P)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Risk Factors for Recurrent Colorectal Polyps.

Gut And Liver
Hao, Yuanzhen Y; Wang, Yining Y; Qi, Miao M; He, Xin X; Zhu, Ying Y; Hong, Junbo J
Publication Date: 2020-07-15

Variant appearance in text: rs35051736
PubMed Link: 31547641
Variant Present in the following documents:
  • Main text
  • GNL-14-399.pdf
View BVdb publication page



Influence of vitamin D on cancer risk and treatment: Why the variability?

Trends In Cancer Research
Young, M Rita I MRI; Xiong, Ying Y
Publication Date: 2018

Variant appearance in text: rs35051736
PubMed Link: 30369773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: rs35051736
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
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: rs35051736
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: rs35051736
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



CYP24A1 and CYP27B1 Polymorphisms, Concentrations of Vitamin D Metabolites, and Odds of Colorectal Adenoma Recurrence.

Nutrition And Cancer
Hibler, Elizabeth A EA; Klimentidis, Yann C YC; Jurutka, Peter W PW; Kohler, Lindsay N LN; Lance, Peter P; Roe, Denise J DJ; Thompson, Patricia A PA; Jacobs, Elizabeth T ET
Publication Date: 2015

Variant appearance in text: rs35051736
PubMed Link: 26241700
Variant Present in the following documents:
  • Main text
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: rs35051736
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Human Molecular Genetics
Carss, Keren J KJ; Hillman, Sarah C SC; Parthiban, Vijaya V; McMullan, Dominic J DJ; Maher, Eamonn R ER; Kilby, Mark D MD; Hurles, Matthew E ME
Publication Date: 2014-06-15

Variant appearance in text: rs35051736
PubMed Link: 24476948
Variant Present in the following documents:
  • supp_ddu038_ddu038supp.pdf
View BVdb publication page