Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.G664R
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KIT

NM_000222.3:p.G664R

Associated Papers

Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.

Silver A et al.

Journal of Personalized Medicine, 2022

35629091 (PubMed )
Supplement: jpm-12-00667-s001.zip › jpm-1646052-supplementary.xlsx › Table_S1__Samples_

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

Nagaputra JC et al.

Jaad Case Reports, 2018

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Gudernova I et al.

Oncotarget, 2017

Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family.

Zheng Y et al.

Annals of Dermatology, 2017

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

McDonell LM et al.

Human Molecular Genetics, 2015

Molecular characterization of piebaldism in a Tunisian family.

Kerkeni E et al.

Pathologie-biologie, 2015

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

Mutations in the c-Kit gene disrupt mitogen-activated protein kinase signaling during tumor development in adenoid cystic carcinoma of the salivary glands.

Tetsu O et al.

Neoplasia (new York, N.y.), 2010

Exploring the cause of drug resistance by the detrimental missense mutations in KIT receptor: computational approach.

Rajasekaran R et al.

Amino Acids, 2010

Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.

Haase B et al.

Plos Genetics, 2007

17997609 (PubMed )
Supplement: pgen.0030195.sg002.pdf

Recent advances in the understanding of mastocytosis: the role of KIT mutations.

Orfao A et al.

British Journal of Haematology, 2007

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