HR c.92C>T ;(p.P31L)

Variant ID: 8-21986592-G-A

NM_005144.4(HR):c.92C>T;(p.P31L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications
de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP
Publication Date: 2023-04-08

Variant appearance in text: HR: P31L; rs770494504
PubMed Link: 37031196
Variant Present in the following documents:
  • 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Frontiers In Molecular Biosciences
Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H
Publication Date: 2020

Variant appearance in text: HR: 92C>T
PubMed Link: 33195396
Variant Present in the following documents:
  • fmolb-07-00169.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: HR: P31L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Nature Communications
Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H
Publication Date: 2019-11-22

Variant appearance in text: HR: 92C>T
PubMed Link: 31757951
Variant Present in the following documents:
  • 41467_2019_13194_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Natural history of patients with congenital dysfibrinogenemia.

Blood
Casini, Alessandro A; Blondon, Marc M; Lebreton, Aurélien A; Koegel, Jérémie J; Tintillier, Véronique V; de Maistre, Emmanuel E; Gautier, Philippe P; Biron, Christine C; Neerman-Arbez, Marguerite M; de Moerloose, Philippe P
Publication Date: 2015-01-15

Variant appearance in text: HR: 92C>T
PubMed Link: 25320241
Variant Present in the following documents:
  • Main text
View BVdb publication page