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TYR c.746A>G ;(p.D249G)
Variant ID: 11-88911867-A-G
NM_000372.4(
TYR
):c.746A>G;(p.D249G)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: TYR: 746A>G; Asp249Gly
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
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: D249G
PubMed Link:
30868138
Variant Present in the following documents:
Main text
nihms-1008828.pdf
View BVdb publication page