TYR c.606T>G ;(p.H202Q)

Variant ID: 11-88911727-T-G

NM_000372.4(TYR):c.606T>G;(p.H202Q)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Functional in silico analysis of human tyrosinase and OCA1 associated mutations.

Journal Of Analytical & Pharmaceutical Research
Patel, Milan M; Sergeev, Yuri Y
Publication Date: 2020

Variant appearance in text: OCA1: H202Q
PubMed Link: 33458560
Variant Present in the following documents:
  • Main text
  • nihms-1637382.pdf
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: H202Q
PubMed Link: 30868138
Variant Present in the following documents:
  • Main text
  • nihms-1008828.pdf
View BVdb publication page



Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience
Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X
Publication Date: 2017

Variant appearance in text: TYR: 606T>G
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
  • 13578_2017_Article_149.pdf
View BVdb publication page



Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Plos One
Ghodsinejad Kalahroudi, Vadieh V; Kamalidehghan, Behnam B; Arasteh Kani, Ahoura A; Aryani, Omid O; Tondar, Mahdi M; Ahmadipour, Fatemeh F; Chung, Lip Yong LY; Houshmand, Massoud M
Publication Date: 2014

Variant appearance in text: OCA1: 606T>G
PubMed Link: 25216246
Variant Present in the following documents:
  • Main text
  • pone.0106656.pdf
View BVdb publication page



Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Investigative Ophthalmology & Visual Science
Gargiulo, Annagiusi A; Testa, Francesco F; Rossi, Settimio S; Di Iorio, Valentina V; Fecarotta, Simona S; de Berardinis, Teresa T; Iovine, Antonello A; Magli, Adriano A; Signorini, Sabrina S; Fazzi, Elisa E; Galantuomo, Maria Silvana MS; Fossarello, Maurizio M; Montefusco, Sandro S; Ciccodicola, Alfredo A; Neri, Alberto A; Macaluso, Claudio C; Simonelli, Francesca F; Surace, Enrico Maria EM
Publication Date: 2011-03

Variant appearance in text: TYR: 606T>G
PubMed Link: 20861488
Variant Present in the following documents:
  • Main text
View BVdb publication page