AKR1C3 c.230A>G ;(p.E77G)

Variant ID: 10-5138747-A-G

NM_003739.5(AKR1C3):c.230A>G;(p.E77G)

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: AKR1C3: E77G
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: AKR1C3: E77G; rs11551177
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.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: AKR1C3: E77G; rs11551177
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



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: AKR1C3: 230A>G; Glu77Gly
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Intracrine androgen biosynthesis and drug resistance.

Cancer Drug Resistance (Alhambra, Calif.)
Penning, Trevor M TM; Asangani, Irfan A IA; Sprenger, Cynthia C; Plymate, Stephen S
Publication Date: 2020

Variant appearance in text: AKR1C3: Glu77Gly
PubMed Link: 35582223
Variant Present in the following documents:
  • cdr-3-912.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: AKR1C3: E77G
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: AKR1C3: 230A>G; E77G; rs11551177
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: AKR1C3: E77G
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: AKR1C3: E77G
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Intracrinology-revisited and prostate cancer.

The Journal Of Steroid Biochemistry And Molecular Biology
Penning, Trevor M TM; Detlefsen, Andrea J AJ
Publication Date: 2020-02

Variant appearance in text: AKR1C3: E77G
PubMed Link: 31614208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between leukocyte aldo-keto reductase 1C3 activity, genotypes, biological, lifestyle and clinical features in a prostate cancer cohort from New Zealand.

Plos One
Karunasinghe, Nishi N; Symes, Eva E; Gamage, Amy A; Wang, Alice A; Murray, Pam P; Zhu, Shuotun S; Goudie, Megan M; Masters, Jonathan J; Ferguson, Lynnette R LR
Publication Date: 2019

Variant appearance in text: rs11551177
PubMed Link: 31125365
Variant Present in the following documents:
  • Main text
  • pone.0217373.pdf
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: AKR1C3: E77G; rs11551177
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
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: rs11551177
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Structural and Functional Biology of Aldo-Keto Reductase Steroid-Transforming Enzymes.

Endocrine Reviews
Penning, Trevor M TM; Wangtrakuldee, Phumvadee P; Auchus, Richard J RJ
Publication Date: 2019-04-01

Variant appearance in text: AKR1C3: E77G
PubMed Link: 30137266
Variant Present in the following documents:
  • Main text
View BVdb publication page



AKR1C3 (type 5 17β-hydroxysteroid dehydrogenase/prostaglandin F synthase): Roles in malignancy and endocrine disorders.

Molecular And Cellular Endocrinology
Penning, Trevor M TM
Publication Date: 2019-06-01

Variant appearance in text: AKR1C3: E77G
PubMed Link: 30012349
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: AKR1C3: E77G; rs11551177
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Molecular basis for prostate cancer racial disparities.

Frontiers In Bioscience (Landmark Edition)
Singh, Santosh K SK; Lillard, James W JW; Singh, Rajesh R
Publication Date: 2017-01-01

Variant appearance in text: AKR1C3: Glu77Gly
PubMed Link: 27814623
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in postmenopausal patients with breast cancer.

The Pharmacogenomics Journal
Hertz, D L DL; Kidwell, K M KM; Seewald, N J NJ; Gersch, C L CL; Desta, Z Z; Flockhart, D A DA; Storniolo, A-M AM; Stearns, V V; Skaar, T C TC; Hayes, D F DF; Henry, N L NL; Rae, J M JM
Publication Date: 2017-12

Variant appearance in text: rs11551177
PubMed Link: 27549341
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quality of life effects of androgen deprivation therapy in a prostate cancer cohort in New Zealand: can we minimize effects using a stratification based on the aldo-keto reductase family 1, member C3 rs12529 gene polymorphism?

Bmc Urology
Karunasinghe, Nishi N; Zhu, Yifei Y; Han, Dug Yeo DY; Lange, Katja K; Zhu, Shuotun S; Wang, Alice A; Ellett, Stephanie S; Masters, Jonathan J; Goudie, Megan M; Keogh, Justin J; Benjamin, Benji B; Holmes, Michael M; Ferguson, Lynnette R LR
Publication Date: 2016-08-02

Variant appearance in text: rs11551177
PubMed Link: 27485119
Variant Present in the following documents:
  • Main text
  • 12894_2016_Article_164.pdf
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: AKR1C3: E77G; rs11551177
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Impact of nonsynonymous single nucleotide polymorphisms on in-vitro metabolism of exemestane by hepatic cytosolic reductases.

Pharmacogenetics And Genomics
Platt, Amity A; Xia, Zuping Z; Liu, Ying Y; Chen, Gang G; Lazarus, Philip P
Publication Date: 2016-08

Variant appearance in text: AKR1C3: Glu77Gly; rs11551177
PubMed Link: 27111237
Variant Present in the following documents:
  • Main text
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: AKR1C3: E77G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: AKR1C3: E77G; rs11551177
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Adrenal androgens and androgen precursors-definition, synthesis, regulation and physiologic actions.

Comprehensive Physiology
Turcu, Adina A; Smith, Joshua M JM; Auchus, Richard R; Rainey, William E WE
Publication Date: 2014-10

Variant appearance in text: AKR1C3: Glu77Gly
PubMed Link: 25428847
Variant Present in the following documents:
  • Main text
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: AKR1C3: E77G; rs11551177
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, 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: AKR1C3: E77G; rs11551177
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10
View BVdb publication page



Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.

European Journal Of Human Genetics : Ejhg
Söderhäll, Cilla C; Körberg, Izabella Baranowska IB; Thai, Hanh T T HT; Cao, Jia J; Chen, Yougen Y; Zhang, Xufeng X; Shulu, Zu Z; van der Zanden, Loes F M LF; van Rooij, Iris A L M IA; Frisén, Louise L; Roeleveld, Nel N; Markljung, Ellen E; Kockum, Ingrid I; Nordenskjöld, Agneta A
Publication Date: 2015-04

Variant appearance in text: AKR1C3: 230A>G; Glu77Gly; rs11551177
PubMed Link: 24986825
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism.

Steroids
Rižner, Tea Lanišnik TL; Penning, Trevor M TM
Publication Date: 2014-01

Variant appearance in text: AKR1C3: Glu77Gly
PubMed Link: 24189185
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ethnical disparities of prostate cancer predisposition: genetic polymorphisms in androgen-related genes.

American Journal Of Cancer Research
Li, Jie J; Mercer, Emma E; Gou, Xin X; Lu, Yong-Jie YJ
Publication Date: 2013

Variant appearance in text: AKR1C3: Glu77Gly
PubMed Link: 23593537
Variant Present in the following documents:
  • Main text
View BVdb publication page



Androgens and doping tests: genetic variation and pit-falls.

British Journal Of Clinical Pharmacology
Rane, Anders A; Ekström, Lena L
Publication Date: 2012-07

Variant appearance in text: AKR1C3: Glu77Gly
PubMed Link: 22506612
Variant Present in the following documents:
  • Main text
View BVdb publication page