TYR c.980A>G ;(p.Y327C)

Variant ID: 11-88924530-A-G

NM_000372.4(TYR):c.980A>G;(p.Y327C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Orphanet Journal Of Rare Diseases
Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G
Publication Date: 2022-05-12

Variant appearance in text: TYR: 980A>G; Tyr327Cys
PubMed Link: 35551639
Variant Present in the following documents:
  • 13023_2022_2340_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.

Translational Vision Science & Technology
Litts, Katie M KM; Woertz, Erica N EN; Wynne, Niamh N; Brooks, Brian P BP; Chacon, Alicia A; Connor, Thomas B TB; Costakos, Deborah D; Dumitrescu, Alina A; Drack, Arlene V AV; Fishman, Gerald A GA; Hauswirth, William W WW; Kay, Christine N CN; Lam, Byron L BL; Michaelides, Michel M; Pennesi, Mark E ME; Stepien, Kimberly E KE; Strul, Sasha S; Summers, C Gail CG; Carroll, Joseph J
Publication Date: 2021-05-03

Variant appearance in text: TYR: 980A>G; Y327C
PubMed Link: 34111268
Variant Present in the following documents:
  • tvst-10-6-22_s007.pdf
View BVdb publication page



Expanding the genome-targeting scope and the site selectivity of high-precision base editors.

Nature Communications
Tan, Junjie J; Zhang, Fei F; Karcher, Daniel D; Bock, Ralph R
Publication Date: 2020-01-31

Variant appearance in text: TYR: Y327C
PubMed Link: 32005820
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Journal Of Analytical & Pharmaceutical Research
Farney, S Katie SK; Dolinska, Monika B MB; Sergeev, Yuri V YV
Publication Date: 2018

Variant appearance in text: OCAIA: Y327C
PubMed Link: 30868138
Variant Present in the following documents:
  • Main text
  • nihms-1008828.pdf
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: 980A>G; Y327C
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page