KIT c.2144G>A ;(p.S715N)

Variant ID: 4-55597496-G-A

NM_000222.2(KIT):c.2144G>A;(p.S715N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: KIT: S715N
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs56094246
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing of tyrosine kinase inhibitor-resistant non-small-cell lung cancers in patients harboring epidermal growth factor-activating mutations.

Bmc Cancer
Masago, Katsuhiro K; Fujita, Shiro S; Muraki, Miho M; Hata, Akito A; Okuda, Chiyuki C; Otsuka, Kyoko K; Kaji, Reiko R; Takeshita, Jumpei J; Kato, Ryoji R; Katakami, Nobuyuki N; Hirata, Yukio Y
Publication Date: 2015-11-16

Variant appearance in text: KIT: S715N
PubMed Link: 26572169
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1925.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KIT: S715N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page