AHR c.1708G>A ;(p.V570I)

Variant ID: 7-17379157-G-A

NM_001621.4(AHR):c.1708G>A;(p.V570I)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: AHR: V570I; rs4986826
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Cell Reports. Medicine
Park, Joseph J; MacLean, Matthew T MT; Lucas, Anastasia M AM; Torigian, Drew A DA; Schneider, Carolin V CV; Cherlin, Tess T; Xiao, Brenda B; Miller, Jason E JE; Bradford, Yuki Y; Judy, Renae L RL; , ; Verma, Anurag A; Damrauer, Scott M SM; Ritchie, Marylyn D MD; Witschey, Walter R WR; Rader, Daniel J DJ
Publication Date: 2022-12-06

Variant appearance in text: rs4986826
PubMed Link: 36513072
Variant Present in the following documents:
  • Main text
  • mmc3.xlsx, sheet 1
  • main.pdf
  • mmc8.pdf
View BVdb publication page



CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: AHR: 1708G>A; V570I
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



The aryl hydrocarbon receptor as a model PAS sensor.

Toxicology Reports
Vazquez-Rivera, Emmanuel E; Rojas, Brenda B; Parrott, Jessica C JC; Shen, Anna L AL; Xing, Yongna Y; Carney, Patrick R PR; Bradfield, Christopher A CA
Publication Date: 2022

Variant appearance in text: AHR: V570I
PubMed Link: 34950569
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

International Journal Of Molecular Sciences
Kolonko-Adamska, Marta M; Uversky, Vladimir N VN; Greb-Markiewicz, Beata B
Publication Date: 2021-03-11

Variant appearance in text: AHR: V570I
PubMed Link: 33799876
Variant Present in the following documents:
  • Main text
  • ijms-22-02868.pdf
  • ijms-22-02868-s001.pdf
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: AHR: V570I; rs4986826
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Refinement of coding SNPs in the human aryl hydrocarbon receptor gene using ISNPranker: An integrative-SNP ranking web-tool.

Computational Biology And Chemistry
Aftabi, Younes Y; Rafei, Saleh S; Zarredar, Habib H; Amiri-Sadeghan, Amir A; Akbari-Shahpar, Mohsen M; Khoshkam, Zahra Z; Seyedrezazadeh, Ensiyeh E; Khalili, Majid M; Mehrnejad, Faramarz F; Fereidouni, Sasan S; Lawrence, B Paige BP
Publication Date: 2021-02

Variant appearance in text: AHR: 1708G>A; Val570Ile; rs4986826
PubMed Link: 33264727
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of Aryl Hydrocarbon Receptor (AhR) in Brain Tumors.

International Journal Of Molecular Sciences
Perepechaeva, Maria L ML; Grishanova, Alevtina Y AY
Publication Date: 2020-04-20

Variant appearance in text: rs4986826
PubMed Link: 32325928
Variant Present in the following documents:
  • Main text
  • ijms-21-02863.pdf
View BVdb publication page



A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease.

Bmc Endocrine Disorders
De Sousa, Sunita M C SMC; Manavis, Jim J; Feng, Jinghua J; Wang, Paul P; Schreiber, Andreas W AW; Scott, Hamish S HS; Torpy, David J DJ
Publication Date: 2020-01-29

Variant appearance in text: AHR: 1708G>A; Val570Ile; rs4986826
PubMed Link: 31996203
Variant Present in the following documents:
  • Main text
  • 12902_2020_Article_495.pdf
View BVdb publication page



Transethnic associations among immune-mediated diseases and single-nucleotide polymorphisms of the aryl hydrocarbon response gene ARNT and the PTPN22 immune regulatory gene.

Journal Of Autoimmunity
Schurman, Shepherd H SH; O'Hanlon, Terrance P TP; McGrath, John A JA; Gruzdev, Artiom A; Bektas, Arsun A; Xu, Hong H; Garantziotis, Stavros S; Zeldin, Darryl C DC; Miller, Frederick W FW
Publication Date: 2020-02

Variant appearance in text: rs4986826
PubMed Link: 31759816
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: AHR: V570I; rs4986826
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



The ERBB-STAT3 Axis Drives Tasmanian Devil Facial Tumor Disease.

Cancer Cell
Kosack, Lindsay L; Wingelhofer, Bettina B; Popa, Alexandra A; Orlova, Anna A; Agerer, Benedikt B; Vilagos, Bojan B; Majek, Peter P; Parapatics, Katja K; Lercher, Alexander A; Ringler, Anna A; Klughammer, Johanna J; Smyth, Mark M; Khamina, Kseniya K; Baazim, Hatoon H; de Araujo, Elvin D ED; Rosa, David A DA; Park, Jisung J; Tin, Gary G; Ahmar, Siawash S; Gunning, Patrick T PT; Bock, Christoph C; Siddle, Hannah V HV; Woods, Gregory M GM; Kubicek, Stefan S; Murchison, Elizabeth P EP; Bennett, Keiryn L KL; Moriggl, Richard R; Bergthaler, Andreas A
Publication Date: 2019-01-14

Variant appearance in text: AHR: 1708G>A
PubMed Link: 30645971
Variant Present in the following documents:
  • mmc5.xlsx, sheet 5
View BVdb publication page



Chemical sensing in development and function of intestinal lymphocytes.

Current Opinion In Immunology
Cervantes-Barragan, Luisa L; Colonna, Marco M
Publication Date: 2018-02

Variant appearance in text: AHR: V570I
PubMed Link: 29452963
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of aryl hydrocarbon receptor polymorphisms on TCDD-mediated CYP1B1 induction and IgM suppression by human B cells.

Toxicology And Applied Pharmacology
Kovalova, Natalia N; Manzan, Maria M; Crawford, Robert R; Kaminski, Norbert N
Publication Date: 2016-10-15

Variant appearance in text: AHR: V570I
PubMed Link: 27535091
Variant Present in the following documents:
  • Main text
View BVdb publication page



CYP1A2--a novel genetic marker for early aromatase inhibitor response in the treatment of breast cancer patients.

Bmc Cancer
Simonsson, Maria M; Veerla, Srinivas S; Markkula, Andrea A; Rose, Carsten C; Ingvar, Christian C; Jernström, Helena H
Publication Date: 2016-03-31

Variant appearance in text: rs4986826
PubMed Link: 27029552
Variant Present in the following documents:
  • Main text
  • 12885_2016_Article_2284.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: rs4986826
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: AHR: V570I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.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: AHR: V570I; rs4986826
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Gene-environment interactions in male reproductive health: special reference to the aryl hydrocarbon receptor signaling pathway.

Asian Journal Of Andrology
Brokken, Leon J S LJ; Giwercman, Yvonne Lundberg YL
Publication Date: 2014

Variant appearance in text: AHR: Val570Ile
PubMed Link: 24369137
Variant Present in the following documents:
  • Main text
  • AJA-16-89.pdf
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: AHR: V570I; rs4986826
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver.

Frontiers In Pharmacology
Klein, Kathrin K; Winter, Stefan S; Turpeinen, Miia M; Schwab, Matthias M; Zanger, Ulrich M UM
Publication Date: 2010

Variant appearance in text: AHR: V570I; rs4986826
PubMed Link: 21918647
Variant Present in the following documents:
  • Main text
  • fphar-01-00129.pdf
View BVdb publication page