OCA2 c.2360C>T ;(p.A787V)

Variant ID: 15-28090177-G-A

NM_000275.2(OCA2):c.2360C>T;(p.A787V)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes
Ullah, Muhammad Ikram MI
Publication Date: 2022-06-16

Variant appearance in text: OCA2: 2360C>T
PubMed Link: 35741834
Variant Present in the following documents:
  • genes-13-01072.pdf
View BVdb publication page



Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports
Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,
Publication Date: 2017-03-07

Variant appearance in text: OCA2: 2360C>T; Ala787Val
PubMed Link: 28266639
Variant Present in the following documents:
  • Main text
  • srep44185-s1.pdf
  • srep44185.pdf
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: OCA2: A787V
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Transforming somatic mutations of mammalian target of rapamycin kinase in human cancer.

Cancer Science
Yamaguchi, Hiroyuki H; Kawazu, Masahito M; Yasuda, Takahiko T; Soda, Manabu M; Ueno, Toshihide T; Kojima, Shinya S; Yashiro, Masakazu M; Yoshino, Ichiro I; Ishikawa, Yuichi Y; Sai, Eirin E; Mano, Hiroyuki H
Publication Date: 2015-12

Variant appearance in text: OCA2: A787V
PubMed Link: 26432419
Variant Present in the following documents:
  • CAS-106-00000000001687-s004.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: OCA2: A787V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Orphanet Journal Of Rare Diseases
Jaworek, Thomas J TJ; Kausar, Tasleem T; Bell, Shannon M SM; Tariq, Nabeela N; Maqsood, Muhammad Imran MI; Sohail, Asma A; Ali, Muhmmmad M; Iqbal, Furhan F; Rasool, Shafqat S; Riazuddin, Saima S; Shaikh, Rehan S RS; Ahmed, Zubair M ZM
Publication Date: 2012-06-26

Variant appearance in text: OCA2: Ala787Val
PubMed Link: 22734612
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-44.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: OCA2: 2360C>T; A787V
PubMed Link: 20861488
Variant Present in the following documents:
  • Main text
View BVdb publication page