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TYR c.866G>A ;(p.C289Y)
Variant ID: 11-88924416-G-A
NM_000372.4(
TYR
):c.866G>A;(p.C289Y)
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:
The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.
Theranostics
Liu, Xuesong X; Hong, Ruoxi R; Du, Peina P; Yang, Di D; He, Meibo M; Wu, Qingnan Q; Li, Lin L; Wang, Yan Y; Chen, Jie J; Min, Qingjie Q; Li, Jinting J; Zhang, Weimin W; Zhan, Qimin Q
Publication Date: 2022
Variant appearance in text: TYR: 866G>A; C289Y
PubMed Link:
36168622
Variant Present in the following documents:
thnov12p6160s2.xlsx, sheet 2
View BVdb publication page
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
Journal Of Clinical Laboratory Analysis
Xu, Chenyang C; Xiang, Yanbao Y; Li, Huanzheng H; Xu, Yunzhi Y; Mao, Yijian Y; Zhou, Lili L; Xu, Xueqin X; Tang, Shaohua S
Publication Date: 2021-02
Variant appearance in text: TYR: C289Y
PubMed Link:
33124154
Variant Present in the following documents:
Main text
JCLA-35-e23647.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: C289Y
PubMed Link:
30868138
Variant Present in the following documents:
Main text
nihms-1008828.pdf
View BVdb publication page
Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.
Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10
Variant appearance in text: TYR: 866G>A; C289Y
PubMed Link:
29127303
Variant Present in the following documents:
41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page