TYR c.814T>C ;(p.W272R)

Variant ID: 11-88911935-T-C

NM_000372.4(TYR):c.814T>C;(p.W272R)

This variant was identified in 1 publication

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: W272R
PubMed Link: 30868138
Variant Present in the following documents:
  • Main text
  • nihms-1008828.pdf
View BVdb publication page