TYR c.649C>G ;(p.R217G)

Variant ID: 11-88911770-C-G

NM_000372.4(TYR):c.649C>G;(p.R217G)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.

Genes
Chan, Kyle S KS; Bohnsack, Brenda L BL; Ing, Alexander A; Drackley, Andy A; Castelluccio, Valerie V; Zhang, Kevin X KX; Ralay-Ranaivo, Hanta H; Rossen, Jennifer L JL
Publication Date: 2023-01-03

Variant appearance in text: TYR: 649C>G; Arg217Gly
PubMed Link: 36672876
Variant Present in the following documents:
  • Main text
  • genes-14-00135.pdf
View BVdb publication page



Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.

The Journal Of Biological Chemistry
Li, Chaoyi C; Chen, Qian Q; Wu, Junjiao J; Ren, Jie J; Zhang, Mengfei M; Wang, Huakun H; Li, Jinchen J; Tang, Yu Y
Publication Date: 2022-05

Variant appearance in text: TYR: R217G
PubMed Link: 35413289
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Delineating the genetic heterogeneity of OCA in Hungarian patients.

European Journal Of Medical Research
Fábos, Beáta B; Farkas, Katalin K; Tóth, Lola L; Sulák, Adrienn A; Tripolszki, Kornélia K; Tihanyi, Mariann M; Németh, Réka R; Vas, Krisztina K; Csoma, Zsanett Z; Kemény, Lajos L; Széll, Márta M; Nagy, Nikoletta N
Publication Date: 2017-06-19

Variant appearance in text: TYR: Arg217Gly
PubMed Link: 28629449
Variant Present in the following documents:
  • Main text
  • 40001_2017_Article_262.pdf
View BVdb publication page



The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation
Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL
Publication Date: 2016

Variant appearance in text: rs63159160
PubMed Link: 27408750
Variant Present in the following documents:
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TYR: 649C>G; R217G
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: OCA1A: R217G
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: TYR: R217G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology
Hutton, Saunie M SM; Spritz, Richard A RA
Publication Date: 2008-10

Variant appearance in text: OCA1: 649C>G
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page