KRT82 c.815C>A ;(p.S272*)

Variant ID: 12-52793896-G-T

NM_033033.3(KRT82):c.815C>A;(p.S272*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.

Nature Communications
Erjavec, Stephanie O SO; Gelfman, Sahar S; Abdelaziz, Alexa R AR; Lee, Eunice Y EY; Monga, Isha I; Alkelai, Anna A; Ionita-Laza, Iuliana I; Petukhova, Lynn L; Christiano, Angela M AM
Publication Date: 2022-02-10

Variant appearance in text: KRT82: Ser272X
PubMed Link: 35145093
Variant Present in the following documents:
  • 41467_2022_Article_28343.pdf
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: KRT82: S272X; rs147112625
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page