KIT (GeneID: 3815) | Homo sapiens
Description: KIT proto-oncogene receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:6342]
Synonyms: SCFR, C-Kit, PBT, CD117
Other ID(s): HGNC:6342, ENSG00000157404
Protein Accession Numbers: NP_001372217, ENST00000288135, NP_001372213, NP_001372221, ENST00000412167, NP_001372215, NP_001087241, NP_001372219, ENST00000288135.5, NP_001372214, NP_000213
Statistics: ClinVar(1136)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000288135 ENST00000412167 NP_000213 NP_001087241 NP_001372213 NP_001372214 NP_001372215 NP_001372217 NP_001372219 NP_001372221


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00047 ig Immunoglobulin domain 217-308 CL0011 Ig Mus musculus
PF07714 PK_Tyr_Ser-Thr Protein tyrosine and serine/threonine kinase 592-926 CL0016 PKinase Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.394 0.759
Malignant Neoplasms Neoplasms ; 0.394 0.759
Malignant neoplasm of skin Neoplasms ; Skin and Connective Tissue Diseases ; 0.394 0.759
Non-Small Cell Lung Carcinoma Neoplasms ; Respiratory Tract Diseases ; 0.394 0.759
Cytopenia N/A 0.394 0.759
Leukemia, Mast-Cell Neoplasms ; 0.394 0.759
Leukemia, Myelocytic, Acute Neoplasms ; 0.394 0.759
Acute myelomonocytic leukemia Neoplasms ; 0.394 0.759
Acute Promyelocytic Leukemia Neoplasms ; 0.394 0.759
Lung diseases Respiratory Tract Diseases ; 0.394 0.759
Mastocytosis Neoplasms ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.394 0.759
melanoma Neoplasms ; 0.394 0.759
Neoplasm Recurrence, Local Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.394 0.759
Seminoma Neoplasms ; 0.394 0.759
Skin Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.394 0.759
Testicular Neoplasms Neoplasms ; Male Urogenital Diseases ; Endocrine System Diseases ; 0.394 0.759
Urticaria Pigmentosa Neoplasms ; Skin and Connective Tissue Diseases ; 0.394 0.759
Piebaldism Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Nutritional and Metabolic Diseases ; 0.394 0.759
Small cell carcinoma of lung Neoplasms ; Respiratory Tract Diseases ; 0.394 0.759
Cutaneous Melanoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.394 0.759
Congenital anemia N/A 0.394 0.759
Thymic Carcinoma Neoplasms ; Hemic and Lymphatic Diseases ; 0.394 0.759
Mastocytosis, Systemic Neoplasms ; Immune System Diseases ; 0.394 0.759
Gastrointestinal Stromal Tumors Neoplasms ; Digestive System Diseases ; 0.394 0.759
Telangiectasia macularis eruptiva perstans N/A 0.394 0.759
Indolent Systemic Mastocytosis Neoplasms ; Immune System Diseases ; 0.394 0.759
Skin Mastocytoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.394 0.759
Malignant mesothelioma Neoplasms ; Respiratory Tract Diseases ; 0.394 0.759
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.394 0.759
Ewings sarcoma-primitive neuroectodermal tumor (PNET) Neoplasms ; 0.394 0.759
Aggressive Systemic Mastocytosis Neoplasms ; Immune System Diseases ; 0.394 0.759
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.394 0.759
Chronic myeloproliferative disorder N/A 0.394 0.759
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease N/A 0.394 0.759
Adenocarcinoma of large intestine N/A 0.394 0.759
Testicular Germ Cell Tumor Neoplasms ; Male Urogenital Diseases ; Endocrine System Diseases ; 0.394 0.759
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.394 0.759
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.394 0.759
Cakut Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.394 0.759
AML M4 Eo with inv(16) or t(16;16) N/A 0.394 0.759
Gastrointestinal Stromal Sarcoma Neoplasms ; Digestive System Diseases ; 0.394 0.759
Male Germ Cell Tumor Neoplasms ; Male Urogenital Diseases ; Endocrine System Diseases ; 0.394 0.759
Thymus Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.394 0.759
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.394 0.759
Mucosal Melanoma N/A 0.394 0.759
Isolated bone marrow mastocytosis N/A 0.394 0.759
NO RESULT FOUND
feedback