CYP8B1 c.262T>G ;(p.S88A)

Variant ID: 3-42917047-A-C

NM_004391.2(CYP8B1):c.262T>G;(p.S88A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk.

Human Molecular Genetics
Li, Yafang Y; Xiao, Xiangjun X; Li, Jianrong J; Byun, Jinyoung J; Cheng, Chao C; Bossé, Yohan Y; McKay, James J; Albanes, Demetrios D; Lam, Stephen S; Tardon, Adonina A; Chen, Chu C; Bojesen, Stig E SE; Landi, Maria T MT; Johansson, Mattias M; Risch, Angela A; Bickeböller, Heike H; Wichmann, H-Erich HE; Christiani, David C DC; Rennert, Gad G; Arnold, Susanne S; Goodman, Gary G; Field, John K JK; Davies, Michael P A MPA; Shete, Sanjay S SS; Le Marchand, Loic L; Melander, Olle O; Brunnström, Hans H; Liu, Geoffrey G; Hung, Rayjean J RJ; Andrew, Angeline S AS; Kiemeney, Lambertus A LA; Shen, Hongbing H; Sun, Ryan R; Zienolddiny, Shan S; Grankvist, Kjell K; Johansson, Mikael M; Caporaso, Neil N; Teare, Dawn M DM; Hong, Yun-Chul YC; Lazarus, Philip P; Schabath, Matthew B MB; Aldrich, Melinda C MC; Schwartz, Ann G AG; Gorlov, Ivan I; Purrington, Kristen K; Yang, Ping P; Liu, Yanhong Y; Han, Younghun Y; Bailey-Wilson, Joan E JE; Pinney, Susan M SM; Mandal, Diptasri D; Willey, James C JC; Gaba, Colette C; Brennan, Paul P; Amos, Christopher I CI; ,
Publication Date: 2022-08-23

Variant appearance in text: rs9865715
PubMed Link: 35138370
Variant Present in the following documents:
  • Main text
  • ddac030.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs9865715
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs9865715
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs9865715
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs9865715
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs9865715
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page