AMACR c.602T>G ;(p.L201W)

Variant ID: 5-33998883-A-C

NM_014324.5(AMACR):c.602T>G;(p.L201W)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: rs2287939
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: rs2287939
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2287939
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
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: rs2287939
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs2287939
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Kos, Mark Z MZ; Carless, Melanie A MA; Peralta, Juan J; Curran, Joanne E JE; Quillen, Ellen E EE; Almeida, Marcio M; Blackburn, August A; Blondell, Lucy L; Roalf, David R DR; Pogue-Geile, Michael F MF; Gur, Ruben C RC; Göring, Harald H H HHH; Nimgaonkar, Vishwajit L VL; Gur, Raquel E RE; Almasy, Laura L
Publication Date: 2017-12

Variant appearance in text: rs2287939
PubMed Link: 28902459
Variant Present in the following documents:
  • Main text
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: rs2287939
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs2287939
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese.

Oncotarget
Tan, Chunwen C; Hu, Wangxiong W; Huang, Yanqin Y; Zhou, Jiaojiao J; Zheng, Shu S
Publication Date: 2016-11-22

Variant appearance in text: rs2287939
PubMed Link: 27769063
Variant Present in the following documents:
  • Main text
  • oncotarget-07-77651.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: rs2287939
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs2287939
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s2.xls, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs2287939
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
View BVdb publication page



Genetic variations of α -methylacyl-CoA racemase are associated with sporadic prostate cancer risk in ethnically homogenous Koreans.

Biomed Research International
Lee, Sang-Jin SJ; Joung, Jae Young JY; Yoon, Hyekyoung H; Kim, Jeong Eun JE; Park, Weon Seo WS; Seo, Ho Kyung HK; Chung, Jinsoo J; Hwang, Jung-Ah JA; Hong, Seung-Hyun SH; Nam, Seungyoon S; Park, Sohee S; Kim, Jeongseon J; Lee, Kang Hyun KH; Lee, Yeon-Su YS
Publication Date: 2013

Variant appearance in text: rs2287939
PubMed Link: 24383053
Variant Present in the following documents:
  • Main text
  • BMRI2013-394285.pdf
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs2287939
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Genetic variants and susceptibility to neurological complications following West Nile virus infection.

The Journal Of Infectious Diseases
Loeb, Mark M; Eskandarian, Sasha S; Rupp, Mark M; Fishman, Neil N; Gasink, Leanne L; Patterson, Jan J; Bramson, Jonathan J; Hudson, Thomas J TJ; Lemire, Mathieu M
Publication Date: 2011-10-01

Variant appearance in text: rs2287939
PubMed Link: 21881118
Variant Present in the following documents:
  • Main text
  • jir493.pdf
View BVdb publication page



AMACR polymorphisms, dietary intake of red meat and dairy and prostate cancer risk.

The Prostate
Wright, Jonathan L JL; Neuhouser, Marian L ML; Lin, Daniel W DW; Kwon, Erika M EM; Feng, Ziding Z; Ostrander, Elaine A EA; Stanford, Janet L JL
Publication Date: 2011-04

Variant appearance in text: rs2287939
PubMed Link: 20945498
Variant Present in the following documents:
  • Main text
View BVdb publication page



Non-synonymous variants in the AMACR gene are associated with schizophrenia.

Schizophrenia Research
Bespalova, Irina N IN; Durner, Martina M; Ritter, Benjamin P BP; Angelo, Gary W GW; Rossy-Fullana, Enrique E; Carrion-Baralt, Jose J; Schmeidler, James J; Silverman, Jeremy M JM
Publication Date: 2010-12

Variant appearance in text: rs2287939
PubMed Link: 20875727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.

Journal Of Cancer Epidemiology
Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angela S AS; Abrams, Judith J; Land, Susan S; Iyer, Priyanka P; Schwartz, Ann G AG
Publication Date: 2009

Variant appearance in text: rs2287939
PubMed Link: 20445798
Variant Present in the following documents:
  • Main text
  • JCE2009-242151.pdf
View BVdb publication page