Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.R791G
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KIT

NM_000222.3:p.R791G

Associated Papers

Shadow coat colour in American mink associated with a missense mutation in the KIT gene.

Manakhov AD et al.

Animal Genetics, 2022

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

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J et al.

Molecular Medicine Reports, 2016

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

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

Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1).

Chiu YE et al.

Pediatric Dermatology, 0

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."