HR c.3064A>G ;(p.T1022A)

Variant ID: 8-21976710-T-C

NM_005144.4(HR):c.3064A>G;(p.T1022A)

This variant was identified in 13 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: HR: T1022A; rs7014851
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: HR: T1022A; rs7014851
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: HR: T1022A
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases
Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S
Publication Date: 2018-11

Variant appearance in text: HR: T1022A; rs7014851
PubMed Link: 30030262
Variant Present in the following documents:
  • annrheumdis-2018-213524supp002.xlsx, sheet 1
View BVdb publication page



The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

Bmc Medical Genomics
Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN
Publication Date: 2016-10-06

Variant appearance in text: rs7014851
PubMed Link: 27716216
Variant Present in the following documents:
  • 12920_2016_223_MOESM1_ESM.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: ALUNC: T1022A; rs7014851
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: HR: T1022A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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: HR: T1022A; rs7014851
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The complete genome sequence of a Neanderthal from the Altai Mountains.

Nature
Prüfer, Kay K; Racimo, Fernando F; Patterson, Nick N; Jay, Flora F; Sankararaman, Sriram S; Sawyer, Susanna S; Heinze, Anja A; Renaud, Gabriel G; Sudmant, Peter H PH; de Filippo, Cesare C; Li, Heng H; Mallick, Swapan S; Dannemann, Michael M; Fu, Qiaomei Q; Kircher, Martin M; Kuhlwilm, Martin M; Lachmann, Michael M; Meyer, Matthias M; Ongyerth, Matthias M; Siebauer, Michael M; Theunert, Christoph C; Tandon, Arti A; Moorjani, Priya P; Pickrell, Joseph J; Mullikin, James C JC; Vohr, Samuel H SH; Green, Richard E RE; Hellmann, Ines I; Johnson, Philip L F PL; Blanche, Hélène H; Cann, Howard H; Kitzman, Jacob O JO; Shendure, Jay J; Eichler, Evan E EE; Lein, Ed S ES; Bakken, Trygve E TE; Golovanova, Liubov V LV; Doronichev, Vladimir B VB; Shunkov, Michael V MV; Derevianko, Anatoli P AP; Viola, Bence B; Slatkin, Montgomery M; Reich, David D; Kelso, Janet J; Pääbo, Svante S
Publication Date: 2014-01-02

Variant appearance in text: rs7014851
PubMed Link: 24352235
Variant Present in the following documents:
  • NIHMS541101-supplement-1.pdf
View BVdb publication page



Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.

Human Genomics
Zhang, Guojie G; Pei, Zhang Z; Ball, Edward V EV; Mort, Matthew M; Kehrer-Sawatzki, Hildegard H; Cooper, David N DN
Publication Date: 2011-07

Variant appearance in text: HR: T1022A
PubMed Link: 21807602
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle.

Journal Of Cellular Biochemistry
Hsieh, Jui-Cheng JC; Slater, Stephanie A SA; Whitfield, G Kerr GK; Dawson, Jamie L JL; Hsieh, Grace G; Sheedy, Craig C; Haussler, Carol A CA; Haussler, Mark R MR
Publication Date: 2010-06-01

Variant appearance in text: HR: T1022A
PubMed Link: 20512927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hairless is a nuclear receptor corepressor essential for skin function.

Nuclear Receptor Signaling
Thompson, Catherine C CC
Publication Date: 2009-12-31

Variant appearance in text: HR: T1022A
PubMed Link: 20087431
Variant Present in the following documents:
  • Main text
  • nrs07010000.pdf
View BVdb publication page