TYR c.116G>A ;(p.W39*)

Variant ID: 11-88911237-G-A

NM_000372.4(TYR):c.116G>A;(p.W39*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Journal Of Clinical Laboratory Analysis
Thuong, Ma Thi Huyen MTH; Anh, Luong Thi Lan LTL; Nhung, Vu Phuong VP; Ngoc, Tran Thi Bich TTB; Lan, Hoang Thu HT; Phuong, Doan Kim DK; Ha, Nguyen Hai NH; Van Hai, Nong N; Ton, Nguyen Dang ND
Publication Date: 2022-09

Variant appearance in text: TYR: 116G>A
PubMed Link: 35870188
Variant Present in the following documents:
  • Main text
  • JCLA-36-e24625.pdf
View BVdb publication page



New Prognostic Biomarkers and Drug Targets for Skin Cutaneous Melanoma via Comprehensive Bioinformatic Analysis and Validation.

Frontiers In Oncology
Zhou, Sitong S; Han, Yuanyuan Y; Li, Jiehua J; Pi, Xiaobing X; Lyu, Jin J; Xiang, Shijian S; Zhou, Xinzhu X; Chen, Xiaodong X; Wang, Zhengguang Z; Yang, Ronghua R
Publication Date: 2021

Variant appearance in text: TYR: 116G>A
PubMed Link: 34722301
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: TYR: 116G>A; W39*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: TYR: 116G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: TYR: 116G>A; W39*
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page