Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.R796G
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KIT

NM_000222.3:p.R796G

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

KIT gene mutation causes deafness and hypopigmentation in Bama miniature pigs.

Xu C et al.

American Journal of Translational Research, 2020

High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Lee SE et al.

Scientific Reports, 2019

31358837 (PubMed )
Supplement: 41598_2019_47439_MOESM2_ESM.xlsx › Table_S5

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Gironi LC et al.

Medicina (kaunas, Lithuania), 2019

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

A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

Yang YJ et al.

Biomed Research International, 2013

Screening of the c-kit gene missense mutation in invasive ductal carcinoma of breast among north Indian population.

Hussain SR et al.

Molecular Biology Reports, 2012

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

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

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

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

Piebaldism with deafness: molecular evidence for an expanded syndrome.

Spritz RA et al.

American Journal of Medical Genetics, 1998

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
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