CD6 c.1480C>T ;(p.Q494*)

Variant ID: 11-60783277-C-T

NM_006725.4(CD6):c.1480C>T;(p.Q494*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, MarĂ­lia O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, EugĂȘnia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: CD6: 1480C>T
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
View BVdb publication page



Single-cell transcriptomics links malignant T cells to the tumor immune landscape in cutaneous T cell lymphoma.

Nature Communications
Liu, Xiangjun X; Jin, Shanzhao S; Hu, Simeng S; Li, Ruoyan R; Pan, Haihao H; Liu, Yi Y; Lai, Pan P; Xu, Deshu D; Sun, Jingru J; Liu, Ziyang Z; Gao, Yumei Y; Zhao, Yifan Y; Liu, Fengjie F; Xiao, Yu Y; Li, Yingyi Y; Wen, Yujie Y; Chen, Zhuojing Z; Xu, Bufang B; Lin, Yuchieh Y; Ran, Menglong M; Li, Qianxi Q; Yang, Shuxia S; Li, Hang H; Tu, Ping P; Haniffa, Muzlifah M; Teichmann, Sarah A SA; Bai, Fan F; Wang, Yang Y
Publication Date: 2022-03-03

Variant appearance in text: CD6: Q494*
PubMed Link: 35241665
Variant Present in the following documents:
  • 41467_2022_28799_MOESM6_ESM.xlsx, sheet 6
View BVdb publication page