DICER1 c.4748T>G ;(p.L1583R)

Variant ID: 14-95562509-A-C

NM_177438.2(DICER1):c.4748T>G;(p.L1583R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DICER1: 4748T>G; Leu1583Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: DICER1: 4748T>G; Leu1583Arg
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: DICER1: 4748T>G; Leu1583Arg
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page



DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Cancers
Robertson, Jake C JC; Jorcyk, Cheryl L CL; Oxford, Julia Thom JT
Publication Date: 2018-05-15

Variant appearance in text: DICER1: 4748T>G
PubMed Link: 29762508
Variant Present in the following documents:
  • Main text
  • cancers-10-00143.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: DICER1: 4748T>G; Leu1583Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

F1000Research
Brenneman, Mark M; Field, Amanda A; Yang, Jiandong J; Williams, Gretchen G; Doros, Leslie L; Rossi, Christopher C; Schultz, Kris Ann KA; Rosenberg, Avi A; Ivanovich, Jennifer J; Turner, Joyce J; Gordish-Dressman, Heather H; Stewart, Douglas D; Yu, Weiying W; Harris, Anne A; Schoettler, Peter P; Goodfellow, Paul P; Dehner, Louis L; Messinger, Yoav Y; Hill, D Ashley DA
Publication Date: 2015

Variant appearance in text: DICER1: L1583R
PubMed Link: 26925222
Variant Present in the following documents:
  • Main text
  • f1000research-4-14447.pdf
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: DICER1: L1583R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report.

Journal Of Medical Case Reports
Rossing, Maria M; Gerdes, Anne-Marie AM; Juul, Anders A; Rechnitzer, Catherine C; Rudnicki, Martin M; Nielsen, Finn C FC; Vo Hansen, Thomas T
Publication Date: 2014-04-03

Variant appearance in text: DICER1: 4748T>G; Leu1583Arg
PubMed Link: 24708902
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-112.pdf
View BVdb publication page



microRNA signature and expression of Dicer and Drosha can predict prognosis and delineate risk groups in neuroblastoma.

Cancer Research
Lin, Ruey-Jen RJ; Lin, You-Chin YC; Chen, Jeremy J; Kuo, Huan-Hsien HH; Chen, Yuan-Yan YY; Diccianni, Mitchell B MB; London, Wendy B WB; Chang, Chih-Hao CH; Yu, Alice L AL
Publication Date: 2010-10-15

Variant appearance in text: Dicer: L1583R
PubMed Link: 20805302
Variant Present in the following documents:
  • Main text
View BVdb publication page



DICER1 mutations in familial pleuropulmonary blastoma.

Science (New York, N.Y.)
Hill, D Ashley DA; Ivanovich, Jennifer J; Priest, John R JR; Gurnett, Christina A CA; Dehner, Louis P LP; Desruisseau, David D; Jarzembowski, Jason A JA; Wikenheiser-Brokamp, Kathryn A KA; Suarez, Brian K BK; Whelan, Alison J AJ; Williams, Gretchen G; Bracamontes, Dawn D; Messinger, Yoav Y; Goodfellow, Paul J PJ
Publication Date: 2009-08-21

Variant appearance in text: DICER1: L1583R
PubMed Link: 19556464
Variant Present in the following documents:
  • Main text
View BVdb publication page