ConVarT

ClinVar Data

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

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
4-55524190-C-T	ENST00000288135	p.Gly3Gly	Synonymous Variant	0	0	0	rs755780019
4-55524191-G-A	ENST00000288135	p.Ala4Thr	Missense Variant	1	31362	0.000032	rs1192807264
4-55524191-G-T	ENST00000288135	p.Ala4Ser	Missense Variant	1	31362	0.000032	rs1192807264	mnv
4-55524192-C-T	ENST00000288135	p.Ala4Val	Missense Variant	1	31360	0.000032	rs1423062466	mnv
4-55524196-C-T	ENST00000288135	p.Arg5Arg	Synonymous Variant	0	0	0	rs1357038342
4-55524199-C-G	ENST00000288135	p.Gly6Gly	Synonymous Variant	0	0	0	rs1348756942
4-55524206-G-A	ENST00000288135	p.Asp9Asn	Missense Variant	2	31360	0.000064	rs1476871700
4-55524211-T-C	ENST00000288135	p.Phe10Phe	Synonymous Variant	0	0	0	rs1406974984
4-55524214-C-G	ENST00000288135	p.Leu11Leu	Synonymous Variant	1	31378	0.000032	rs894439242
4-55524218-G-A	ENST00000288135	p.Val13Ile	Missense Variant	0	0	0	rs753316557
4-55524223-G-A	ENST00000288135	p.Leu14Leu	Synonymous Variant	0	0	0	rs1330227601
4-55524225-T-C	ENST00000288135	p.Leu15Pro	Missense Variant	0	0	0	rs1230808481
4-55524226-C-T	ENST00000288135	p.Leu15Leu	Synonymous Variant	0	0	0	rs755527973
4-55524227-C-T	ENST00000288135	p.Leu16Leu	Synonymous Variant	0	0	0	rs779421107
4-55524231-T-A	ENST00000288135	p.Leu17Gln	Missense Variant	0	0	0	rs748615975
4-55524233-C-G	ENST00000288135	p.Leu18Val	Missense Variant	0	0	0	rs370787811
4-55524233-C-T	ENST00000288135	p.Leu18Phe	Missense Variant	1	31370	0.000032	rs370787811
4-55524236-C-T	ENST00000288135	p.Arg19Cys	Missense Variant	0	0	0	rs1490714621
4-55524237-G-A	ENST00000288135	p.Arg19His	Missense Variant	0	0	0	rs747253141
4-55524237-G-T	ENST00000288135	p.Arg19Leu	Missense Variant	0	0	0	rs747253141	mnv

Showing 1 to 20 of 667 entries

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Post-translational Modifications (PTMs)

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
KIT	P10721	Sumoylation	173	K173-sm	PKAGIMIkSVKRAYH	109.86	55433181
KIT	P10721	Phosphorylation	215	S215-p	FKAVPVVsVsKASYL	109.86	23119562
KIT	P10721	Phosphorylation	217	S217-p	AVPVVsVsKASYLLR	109.86	31825620
KIT	P10721	Phosphorylation	232	T232-p	EGEEFTVtCTIKDVS	109.86	5771229
KIT	P10721	Phosphorylation	240	S240-p	CTIKDVSssVYSTWK	109.86	5771234
KIT	P10721	Phosphorylation	241	S241-p	TIKDVSssVYSTWKR	109.86	5771239
KIT	P10721	Phosphorylation	354	T354-p	QWIYMNRtFTDKWED	109.86	3071627
KIT	P10721	Phosphorylation	362	Y362-p	FTDKWEDyPKSENES	109.86	3071375
KIT	P10721	Phosphorylation	488	T488-p	SAFKHNGtVECKAyN	109.86	36419294
KIT	P10721	Phosphorylation	494	Y494-p	GtVECKAyNDVGKTS	109.86	36419297
KIT	P10721	Phosphorylation	547	Y547-p	VMILTYKyLQKPMyE	109.86	13876400
KIT	P10721	Phosphorylation	553	Y553-p	KyLQKPMyEVQWKVV	109.86	13876401
KIT	P10721	Phosphorylation	568	Y568-p	EEINGNNyVyIDPTQ	109.86	448014
KIT	P10721	Phosphorylation	570	Y570-p	INGNNyVyIDPTQLP	109.86	448015
KIT	P10721	Phosphorylation	578	Y578-p	IDPTQLPyDHKWEFP	109.86	454943
KIT	P10721	Phosphorylation	609	Y609-p	KVVEATAyGLIKSDA	109.86	463573
KIT	P10721	Ubiquitination	642	K642-ub	EALMSELkVLSYLGN	109.86	573761192
KIT	P10721	Phosphorylation	703	Y703-p	DHAEAALyKNLLHSK	109.86	448016
KIT	P10721	Phosphorylation	718	T718-p	ESSCSDStNEyMDMK	109.86	17552987
KIT	P10721	Phosphorylation	721	Y721-p	CSDStNEyMDMKPGV	109.86	448017

Showing 1 to 20 of 37 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Complex - Compound Substitution

Complex - Deletion Inframe

Complex - Frameshift

Complex - Insertion Inframe

Deletion - Frameshift

Deletion - In Frame

Frameshift

Insertion - Frameshift

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
KIT	ENST00000288135	1326708	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	26280719	c.2447A>T	p.D816V	Substitution - Missense	PATHOGENIC	.99115	Reported in another cancer sample as somatic	PMID: 20061010	NS	816
KIT	ENST00000288135	25	soft_tissue	gastrointestinal_stromal_tumour	171768154	c.?	p.V559D	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 15930355	NS	559
KIT	ENST00000288135	25	soft_tissue	gastrointestinal_stromal_tumour	171768838	c.?	p.D820Y	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 15930355	NS	820
KIT	ENST00000288135	MBC012T	breast	carcinoma	26301788	c.1240G>A	p.E414K	Substitution - Missense	PATHOGENIC	.90568	Variant of unknown origin	PMID: 31340200	NS	414
KIT	ENST00000288135	1054616	soft_tissue	gastrointestinal_stromal_tumour	171770003	c.?	p.Y553_W557del	Deletion - In frame			Variant of unknown origin	PMID: 17240304	NS	553
KIT	ENST00000288135	1545138	soft_tissue	gastrointestinal_stromal_tumour	171768630	c.(1648_1774)?	p.(550_592)?	Unknown			Variant of unknown origin	PMID: 21064103	primary	0
KIT	ENST00000288135	1680588	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	171768027	c.?	p.D816V	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 21656905	NS	816
KIT	ENST00000288135	INV055	large_intestine	carcinoma	171768569	c.?	p.D52N	Substitution - Missense			Variant of unknown origin	PMID: 26968814	primary	52
KIT	ENST00000288135	E13690	soft_tissue	gastrointestinal_stromal_tumour	26281246	c.1669_1674del	p.W557_K558del	Deletion - In frame			Reported in another cancer sample as somatic	PMID: 10485475	primary	557
KIT	ENST00000288135	2028588	skin	malignant_melanoma	171768152	c.?	p.?	Unknown			Reported in another cancer sample as somatic	PMID: 23775962	NS	0
KIT	ENST00000288135	J32_T	lung	carcinoma	26295439	c.1231+3677A>T	p.?	Unknown	NEUTRAL	.02388	Confirmed somatic variant	PMID: N/A	NS	0
KIT	ENST00000288135	LICA-CN-HCC079T	liver	other	26292778	c.2890G>T	p.A964S	Substitution - Missense	NEUTRAL	.43619	Confirmed somatic variant	PMID: N/A	primary	964
KIT	ENST00000288135	2755864	soft_tissue	gastrointestinal_stromal_tumour	171768838	c.?	p.D820Y	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 27974047	NS	820
KIT	ENST00000288135	2755864	soft_tissue	gastrointestinal_stromal_tumour	171768305	c.?	p.Y823D	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 27974047	NS	823
KIT	ENST00000288135	2755864	soft_tissue	gastrointestinal_stromal_tumour	171771494	c.?	p.V560E	Substitution - Missense			Variant of unknown origin	PMID: 27974047	NS	560
KIT	ENST00000288135	2755864	soft_tissue	gastrointestinal_stromal_tumour	171771495	c.?	p.F110fs*33	Frameshift			Variant of unknown origin	PMID: 27974047	NS	0
KIT	ENST00000288135	1449162	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	171768027	c.?	p.D816V	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 20434205	NS	816
KIT	ENST00000288135	1070926	soft_tissue	gastrointestinal_stromal_tumour	171776033	c.?	p.P551_Y553del	Deletion - In frame			Variant of unknown origin	PMID: 17200352	NS	0
KIT	ENST00000288135	E28658	soft_tissue	gastrointestinal_stromal_tumour	26280760	c.1504_1509dup	p.A502_Y503dup	Insertion - In frame			Reported in another cancer sample as somatic	PMID: 14691917	primary	502
KIT	ENST00000288135	1949789	soft_tissue	gastrointestinal_stromal_tumour	171768154	c.?	p.V559D	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 22866155	primary	559

Showing 1 to 20 of 5,514 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00047	ig	Immunoglobulin domain	216-305	CL0011	Ig	Homo sapiens
PF07714	PK_Tyr_Ser-Thr	Protein tyrosine and serine/threonine kinase	589-924	CL0016	PKinase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
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

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, ENST00000412167, NP_001372221, NP_001372215, NP_001087241, ENST00000288135.5, NP_001372219, NP_001372214, NP_000213
Statistics:	ClinVar(1143) gnomAD(667) COSMIC(5514) PTM(37)

Classification of Clinicial Significance of ClinVar Data