Variant: rs121913506 

    present in Gene: KIT
    present in Chromosome: 4
    Position on Chromosome: 54733154
    Alleles of this Variant: G/A;C;T

rs121913506 in KIT gene and Cutaneous Mastocytosis PMID 19865100 2010 Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

PMID 24289326 2014 A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.

PMID 9990072 1999 Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.

PMID 15173254 2004 A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

PMID 21689725 2011 Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

rs121913506 in KIT gene and Gastrointestinal Stromal Tumors PMID 15790786 2005 Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 19164557 2009 KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients.

PMID 20147452 2010 Function of activation loop tyrosine phosphorylation in the mechanism of c-Kit auto-activation and its implication in sunitinib resistance.

rs121913506 in KIT gene and Hematologic Neoplasms PMID 16731599 2006 An update on molecular genetics of gastrointestinal stromal tumours.

rs121913506 in KIT gene and Leukemia, Myelocytic, Acute PMID 23714533 2013 The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia.

PMID 19164557 2009 KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients.

rs121913506 in KIT gene and melanoma PMID 9438854 1998 Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.

PMID 11276010 2001 Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours.

PMID 15790786 2005 Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412.

PMID 16741525 2006 Detection of c-kit exons 11- and 17-activating mutations in testicular seminomas by high-resolution melting amplicon analysis.

PMID 7530509 1995 Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines.

PMID 21690468 2011 Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification.

PMID 21642685 2011 KIT as a therapeutic target in metastatic melanoma.

PMID 18955458 2008 Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor.