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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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