KIT

CIViC ID: 29 · Entrez: 3815

Aliases: C-Kit,CD117,PBT,SCFR,KIT,MASTC

Description

c-KIT activation has been shown to have oncogenic activity in gastrointestinal stromal tumors (GISTs), melanomas, lung cancer, and other tumor types. The targeted therapeutics nilotinib and sunitinib have shown efficacy in treating KIT overactive patients, and are in late-stage trials in melanoma and GIST. KIT overactivity can be the result of many genomic events from genomic amplification to overexpression to missense mutations. Missense mutations have been shown to be key players in mediating clinical response and acquired resistance in patients being treated with these targeted therapeutics.

Cyan = gene · Slate = variant · Green = drug · Click variant to filter table

Variants (49)

CIViC ID	Name	HGVS	Type(s)
5366	A502_Y503dup
1558	A502_Y503insAY Ala502_Tyr503insAlaTyr	NC_000004.12:g.54726016_54726017insGCCTAT,NC_000004.11:g.55592182_55592183insGCCTAT,NM_000222.3:c.1506_1507insGCCTAT,ENST00000288135.6:c.1506_1507insGCCTAT,NP_000213.1:p.Ala502_Tyr503insAlaTyr,ENSP00000288135.6:p.Ala502_Tyr503insAlaTyr	inframe_insertion
990	A829P RS1057519713,ALA829PRO	NC_000004.11:g.55602664G>C,NM_000222.2:c.2485G>C,NP_000213.1:p.Ala829Pro	missense_variant
586	Amplification		transcript_amplification
1264	C809G CYS809GLY	ENST00000288135.5:c.2425T>G,NC_000004.11:g.55599299T>G,NM_000222.2:c.2425T>G,NP_000213.1:p.Cys809Gly	missense_variant
977	D579del ASP579DEL,RS1060502543	ENST00000288135.5:c.1735_1737delGAT,NM_000222.2:c.1735_1737delGAT,NP_000213.1:p.Asp579del,NC_000004.11:g.55593669_55593671delGAT	conservative_inframe_deletion
1559	D816E D812E,ASP816GLU	ENST00000288135.5:c.2448C>G,NC_000004.11:g.55599322C>G,NM_000222.2:c.2448C>G,NP_000213.1:p.Asp816Glu	missense_variant
983	D816H ASP816HIS,RS121913506	NM_000222.2:c.2446G>C,NP_000213.1:p.Asp816His,NC_000004.11:g.55599320G>C,ENST00000288135.5:c.2446G>C	missense_variant
65	D816V ASP816VAL,RS121913507	NM_000222.2:c.2447A>T,NP_000213.1:p.Asp816Val,ENST00000288135.5:c.2447A>T,NC_000004.11:g.55599321A>T	missense_variant
1265	D820A ASP820ALA	ENST00000288135.5:c.2459A>C,NC_000004.11:g.55599333A>C,NM_000222.2:c.2459A>C,NP_000213.1:p.Asp820Ala	missense_variant
1266	D820G ASP820GLY,RS121913682	NM_000222.2:c.2459A>G,NP_000213.1:p.Asp820Gly,NC_000004.11:g.55599333A>G,ENST00000288135.5:c.2459A>G	missense_variant
986	D820Y ASP820TYR,RS1057519710	NM_000222.2:c.2458G>T,NP_000213.1:p.Asp820Tyr,NC_000004.11:g.55599332G>T,ENST00000288135.5:c.2458G>T	missense_variant
429	EXPRESSION
66	Exon 11 Mutation		coding_sequence_variant
2643	Exon 13 Mutation
69	Exon 14 Mutation		exon_variant
509	Exon 9 Mutation		exon_variant
2621	F506_F508DUP	p.Phe506_Phe508dup,c.55592192_55592200dup
67	Internal Duplication		inframe_insertion
2622	K484_G487DEL
949	K550_K558del RS121913234,KPMYEVQWK550-558DEL	NM_000222.2:c.1648_1674del27,NP_000213.1:p.Lys550_Lys558del,NC_000004.11:g.55593582_55593608del27,ENST00000288135.5:c.1648_1674del27	inframe_deletion
2696	K550_K559DEL
948	K550_W557del	ENST00000288135.5:c.1648_1671del AAACCCATGTATGAAGTACAGTGG	inframe_deletion
964	K558_V559del	ENST00000288135.5:c.1672_1677delAAGGTT
1549	K558delinsNP		delins
978	K642E RS121913512,LYS642GLU	NM_000222.2:c.1924A>G,NP_000213.1:p.Lys642Glu,NC_000004.11:g.55594221A>G,ENST00000288135.5:c.1924A>G	missense_variant
72	L576P RS121913513,LEU576PRO	NM_000222.2:c.1727T>C,NP_000213.1:p.Leu576Pro,ENST00000288135.5:c.1727T>C,NC_000004.11:g.55593661T>C	missense_variant
201	M541L MET541LEU,RS3822214	NM_000222.2:c.1621A>C,NP_000213.1:p.Met541Leu,ENST00000288135.5:c.1621A>C,NC_000004.11:g.55593464A>C	missense_variant
388	Mutation		transcript_variant
987	N822H		missense_variant
1263	N822K ASN822LYS,RS121913514	NM_000222.2:c.2466T>A,NP_000213.1:p.Asn822Lys,NC_000004.11:g.55599340T>A,ENST00000288135.5:c.2466T>A	missense_variant
1497	P551_E554delPMYE		inframe_deletion
482	RS3733542 LEU862=	NC_000004.11:g.55602765G>C,NM_000222.2:c.2586G>C,NP_000213.1:p.Leu862=,ENST00000288135.5:c.2586G>C	synonymous_variant
1659	S628N S624N		missense_variant
2620	T417_D419delinsY
1267	T670I THR670ILE,RS121913516	NM_000222.2:c.2009C>T,NP_000213.1:p.Thr670Ile,NC_000004.11:g.55595519C>T,ENST00000288135.5:c.2009C>T	missense_variant
2695	V555_V559DEL
968	V559D RS121913517,VAL559ASP	NM_000222.2:c.1676T>A,NP_000213.1:p.Val559Asp,NC_000004.11:g.55593610T>A,ENST00000288135.5:c.1676T>A	missense_variant
971	V560D VAL560ASP,RS121913521	ENST00000288135.5:c.1679T>A,NM_000222.2:c.1679T>A,NP_000213.1:p.Val560Asp,NC_000004.11:g.55593613T>A	missense_variant
202	V560DEL VAL560DEL,V559DEL,V555DEL,V556DEL	NC_000004.11:g.55593612_55593614del,ENST00000288135.5:c.1675_1677delGTT,NM_000222.2:c.1675_1677delGTT,NP_000213.1:p.Val560del	amino_acid_deletion,inframe_deletion
972	V560G RS121913521,VAL560GLY	NM_000222.2:c.1679T>G,NP_000213.1:p.Val560Gly,NC_000004.11:g.55593613T>G,ENST00000288135.5:c.1679T>G	missense_variant
1550	V560_L576del		inframe_deletion
5181	V560_Y578del
73	V654A RS121913523,VAL654ALA	NC_000004.11:g.55594258T>C,NM_000222.2:c.1961T>C,NP_000213.1:p.Val654Ala,ENST00000288135.5:c.1961T>C	missense_variant
961	W557_K558del		conservative_inframe_deletion
2651	Wildtype		wild_type
946	Y503_F504insAY	NC_000004.11:g.55592185_55592186insGCCTAT	inframe_insertion
989	Y823D TYR823ASP,RS1057519761	NM_000222.2:c.2467T>G,NP_000213.1:p.Tyr823Asp,NC_000004.11:g.55599341T>G,ENST00000288135.5:c.2467T>G	missense_variant
256	rs17084733 3' UTR MUTATION	NC_000004.11:g.55604940G>A	3_prime_UTR_variant

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