NOS1AP c.824C>T ;(p.S275F)

Variant ID: 1-162326811-C-T

NM_014697.2(NOS1AP):c.824C>T;(p.S275F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: NOS1AP: 824C>T; S275F
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: NOS1AP: S275F
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.

Plos One
Shigemizu, Daichi D; Aiba, Takeshi T; Nakagawa, Hidewaki H; Ozaki, Kouichi K; Miya, Fuyuki F; Satake, Wataru W; Toda, Tatsushi T; Miyamoto, Yoshihiro Y; Fujimoto, Akihiro A; Suzuki, Yutaka Y; Kubo, Michiaki M; Tsunoda, Tatsuhiko T; Shimizu, Wataru W; Tanaka, Toshihiro T
Publication Date: 2015

Variant appearance in text: NOS1AP: 824C>T; S275F
PubMed Link: 26132555
Variant Present in the following documents:
  • Main text
  • pone.0130329.pdf
View BVdb publication page