SHTN1 c.1598C>T ;(p.P533L)

Variant ID: 10-118661351-G-A

NM_001127211.2(SHTN1):c.1598C>T;(p.P533L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: SHTN1: P533L
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.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: KIAA1598: 1598C>T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

American Journal Of Medical Genetics. Part A
Murdock, David R DR; Clark, Gary D GD; Bainbridge, Matthew N MN; Newsham, Irene I; Wu, Yuan-Qing YQ; Muzny, Donna M DM; Cheung, Sau Wai SW; Gibbs, Richard A RA; Ramocki, Melissa B MB
Publication Date: 2011-09

Variant appearance in text: KIAA1598: 1598C>T
PubMed Link: 21834044
Variant Present in the following documents:
  • Main text
View BVdb publication page