CYP8B1 c.713A>G ;(p.K238R)

Variant ID: 3-42916596-T-C

NM_004391.2(CYP8B1):c.713A>G;(p.K238R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.

The Journal Of Clinical Investigation
Zhong, Shiqi S; Chèvre, Raphael R; Castaño Mayan, David D; Corlianò, Maria M; Cochran, Blake J BJ; Sem, Kai Ping KP; van Dijk, Theo H TH; Peng, Jianhe J; Tan, Liang Juin LJ; Hartimath, Siddesh V SV; Ramasamy, Boominathan B; Cheng, Peter P; Groen, Albert K AK; Kuipers, Folkert F; Goggi, Julian L JL; Drum, Chester C; van Dam, Rob M RM; Tan, Ru San RS; Rye, Kerry-Anne KA; Hayden, Michael R MR; Cheng, Ching-Yu CY; Chacko, Shaji S; Flannick, Jason J; Sim, Xueling X; Tan, Hong Chang HC; Singaraja, Roshni R RR
Publication Date: 2022-11-01

Variant appearance in text: CYP8B1: K238R
PubMed Link: 36107630
Variant Present in the following documents:
  • jci-132-152961-s071.pdf
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: rs35764459
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CYP8B1: K238R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One
Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S
Publication Date: 2013

Variant appearance in text: CYP8B1: K238R; rs35764459
PubMed Link: 24340040
Variant Present in the following documents:
  • pone.0082562.s002.xlsx, sheet 1
View BVdb publication page