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TYR c.1138T>C ;(p.S380P)
Variant ID: 11-88961092-T-C
NM_000372.4(
TYR
):c.1138T>C;(p.S380P)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: S380P
PubMed Link:
30868138
Variant Present in the following documents:
Main text
nihms-1008828.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: OCA1A: S380P
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: S380P
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: 1138T>C
PubMed Link:
18463683
Variant Present in the following documents:
Main text
View BVdb publication page