Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.G812V
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KIT

NM_000222.3:p.G812V

Associated Papers

Assessing the Activation of Tyrosine Kinase KIT through Free Energy Calculations.

Sandoval-Pérez A et al.

Journal of Chemical Theory and Computation, 2022

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_9.xlsx › Sheet1

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS5.ActMutationClusters

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 13

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.

Jia WX et al.

Therapeutics and Clinical Risk Management, 2015

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

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

A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype.

Chong KL et al.

Journal of Dermatological Science, 2010

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

Rajasekaran R et al.

Amino Acids, 2010

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

Orfao A et al.

British Journal of Haematology, 2007

[A novel KIT gene mutation from a family with piebaldism in the southern part of China].

Deng WP et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

[A novel KIT gene mutation results in piebaldism].

Deng WP et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Orlova KV et al.

Case Reports in Oncology, 0

31043947 (PubMed )
Supplement: cro-0012-0109-s01.pdf

KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.

Hegde SS et al.

Indian Dermatology Online Journal, 0

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