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Gene Symbol KIT
Synonyms C-Kit | CD117 | MASTC | PBT | SCFR
Gene Description KIT, KIT proto-oncogene, receptor tyrosine kinase, is a transmembrane receptor tyrosine kinase (PMID: 32214210) that binds the stem cell factor (SCF) ligand to activate PI3K, JAK/STAT, and MAPK pathways to promote cell survival and proliferation (PMID: 23181448, PMID: 29704617). Activating Kit mutations are driver mutations in a variety of cancers, particularly in gastrointestinal stromal tumors (PMID: 23127174, PMID: 29704617, PMID: 32091431), acute myeloid leukemia (PMID: 32008291), melanomas (PMID: 30707374, PMID: 32608199), and seminomas (PMID: 29704617).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
3815 4 4q12 NM_000222 Oncogene (PMID: 30606230)

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Molecular Profile Protein Effect Treatment Approaches
KIT A402S unknown
KIT A502_Y503dup gain of function KIT Inhibitor
KIT A502_Y503dup KIT D820E
KIT A502_Y503dup KIT N822K
KIT A502_Y503dup KIT V654A
KIT A502_Y503dup KIT D816H
KIT A502_Y503dup KIT T574_P577del
KIT A502_Y503dup KIT T574_P577del KIT V654A KIT N822K
KIT A621S unknown
KIT A755T unknown
KIT A794E unknown
KIT A829P gain of function KIT Inhibitor
KIT V560_Y578del KIT A829P
KIT W557_K558del KIT A829P
KIT exon11 KIT A829P
KIT V559D KIT A829P
KIT V559_G565del KIT V654A KIT A829P
KIT exon 11 del KIT A829P
KIT V560_D572del KIT A829P
KIT exon 11 del KIT V654A KIT A829P
KIT K550_K558del KIT V654A KIT A829P
KIT act mut gain of function KIT Inhibitor
KIT amp no effect KIT Inhibitor
ALK fusion ALK G1202R KIT amp
KIT C443S unknown
KIT C443Y gain of function - predicted KIT Inhibitor
KIT C809G unknown
KIT K642E KIT C809G KIT N822H
KIT exon 11 del KIT C809G
KIT K550_V555del KIT V654A KIT C809G
KIT D419del unknown KIT Inhibitor
KIT D419G no effect - predicted
KIT D52N unknown
KIT D572A gain of function - predicted KIT Inhibitor
KIT D572G gain of function
KIT D572N unknown
KIT D572Y unknown
KIT D579del gain of function KIT Inhibitor
KIT D579G unknown
KIT V560D KIT D579G KIT D816N
KIT D60N unknown KIT Inhibitor
KIT D677N unknown
KIT D677N KIT D816V
KIT D816A unknown Avapritinib
KIT exon 11 del KIT D816A
KIT exon 11 del KIT V654A KIT D816A
KIT D816E unknown KIT Inhibitor Avapritinib
KIT V560_Y578del KIT D816E
KIT Y570_L576del KIT D816E PTEN T321fs
KIT D816E KIT D820V
KIT W557_K558del KIT D816E KIT D820V
KIT exon 11 del KIT D816E
KIT Y568_L576delinsCV KIT D816E KIT D820Y
KIT D816F gain of function KIT Inhibitor Avapritinib
KIT D816G gain of function KIT Inhibitor Avapritinib
KIT W557_K558del KIT D816G
ROS1 fusion KIT D816G
KIT exon 11 del KIT D816G
KIT exon 9 ins KIT D816G
KIT D816H gain of function Avapritinib Dasatinib
KIT W557_K558del KIT D816H
KIT V560D KIT D816H
KIT exon 11 del KIT D816H
KIT W557_K558del KIT V654G KIT D816H
KIT D816I gain of function KIT Inhibitor Avapritinib
KIT D816N gain of function KIT Inhibitor Avapritinib
KIT D816V gain of function Avapritinib Dasatinib
KIT V560G KIT D816V
KIT D816V NRAS Q61R
KIT T670I KIT D816V
KIT N655K KIT D816V
KIT Y672C KIT D816V
KIT V654A KIT D816V
KIT T670V KIT D816V
KIT T670A KIT D816V
KIT D816X unknown
KIT D816Y gain of function KIT Inhibitor Avapritinib
KIT D816_N822delinsMIDSI unknown
KIT D820A gain of function - predicted KIT Inhibitor
KIT V560D KIT D820A
KIT W557_K558del KIT D820A
KIT exon 11 del KIT D820A
KIT exon 11 del KIT V654A KIT D820A
KIT D820E unknown
KIT D820G unknown KIT Inhibitor
KIT W557_K558del KIT D820G
KIT W557Lfs*5 KIT P577del KIT D820G
KIT V559D KIT D820G
KIT V555_L576del KIT D820G KIT D820Y
KIT exon 11 del KIT D820G
KIT D820G KIT N822K
KIT V560D KIT D820G KIT N822K KIT Y870*
KIT D820H unknown KIT Inhibitor
KIT D820N unknown
KIT D820V unknown KIT Inhibitor
KIT W557_K558del KIT V654A KIT D820V
KIT D820Y gain of function KIT Inhibitor
KIT V559D KIT D820Y
KIT Y553S KIT W557_Q575del KIT D820Y
KIT exon 11 del KIT D820Y
KIT P551_E554delinsQ KIT S645_L647dup KIT D820Y
KIT E228* loss of function - predicted
KIT E249* loss of function - predicted
KIT E306* loss of function - predicted
KIT E490* loss of function - predicted
KIT E490K unknown KIT Inhibitor
KIT E53K unknown
KIT E554K unknown
KIT E554_D572delinsA gain of function - predicted KIT Inhibitor
KIT E554_K558del gain of function - predicted KIT Inhibitor
KIT E554_K558del KIT V654A
KIT E554_Y570del gain of function - predicted KIT Inhibitor
KIT E554_Y570del KIT V654A
KIT E561fs loss of function - predicted
KIT E561K unknown
KIT E562K unknown
KIT E562_L576del gain of function - predicted KIT Inhibitor
KIT E562_L576del KIT N822Y
KIT E695* loss of function - predicted
KIT E839K loss of function
KIT exon 11 del gain of function KIT Inhibitor
KIT exon 11 del KIT T670I
KIT exon 11 del KIT V654A
KIT exon 11 del KIT N822K
KIT exon 11 del KIT Y823D
KIT exon 11 del KIT exon13
KIT exon 11 del KIT V654A KIT N822K
KIT exon 9 ins unknown
KIT exon 9 ins KIT V654A
KIT exon 9 ins KIT exon13
KIT exon11 unknown
KIT exon11 KIT V654A
KIT exon11 KIT T670I
KIT exon11 KIT exon17
KIT exon11 KIT exon13
KIT exon11 KIT exon18
KIT exon13 unknown
KIT exon9 KIT exon13
KIT exon14 unknown
KIT exon17 unknown
KIT exon18 unknown
KIT exon8 unknown
KIT exon9 unknown
KIT F522C gain of function - predicted KIT Inhibitor
KIT F584S unknown
KIT F811L unknown
KIT fusion unknown
KIT G387R unknown
KIT G498S unknown
KIT G510C unknown
KIT G51D unknown
KIT G565* loss of function - predicted
KIT G565V unknown
KIT G565_T574delinsA gain of function - predicted
KIT G664R loss of function
KIT G779C unknown
KIT G812V unknown
KIT H630Y unknown
KIT H697Y gain of function - predicted KIT Inhibitor
KIT I371S no effect - predicted
KIT I563_L576del gain of function - predicted KIT Inhibitor
KIT I571V unknown
KIT I571_D579dup unknown
KIT I571_L576del gain of function - predicted KIT Inhibitor
KIT I653T unknown
KIT I748D unknown
KIT W557_K558del KIT V654A KIT I748D
KIT I798T unknown
KIT K509I gain of function KIT Inhibitor
KIT K509R unknown
KIT K550_E554del gain of function - predicted KIT Inhibitor
KIT K550_K558del gain of function KIT Inhibitor
KIT K550_P551del gain of function - predicted KIT Inhibitor
KIT K550_V555del gain of function - predicted
KIT K550_V555delinsI gain of function - predicted KIT Inhibitor
KIT K550_V559del gain of function - predicted KIT Inhibitor
KIT K558* loss of function - predicted
KIT K558delinsNP unknown KIT Inhibitor
KIT K558E unknown
KIT K558N unknown
KIT K558N KIT V560del
KIT K558Q unknown
KIT K558R unknown
KIT K558_D572del gain of function - predicted KIT Inhibitor
KIT K558_E562del gain of function - predicted KIT Inhibitor
KIT K558_G565delinsR gain of function - predicted KIT Inhibitor
KIT K558_N564del gain of function - predicted KIT Inhibitor
KIT K558_V559del gain of function - predicted KIT Inhibitor
KIT K558_V559delinsN gain of function - predicted
KIT K558_V559delinsN KIT T670E
KIT K558_V559insNP unknown
KIT K558_V560del gain of function - predicted KIT Inhibitor
KIT W557C KIT K558_V560del
KIT K558_V560del KIT V654A
KIT K558_V560delinsN gain of function - predicted
KIT K558_Y570delinsN gain of function - predicted KIT Inhibitor
KIT K558_Y570delinsNP gain of function - predicted KIT Inhibitor
KIT K558_Y570delinsR gain of function - predicted KIT Inhibitor
KIT K581_W582insDPTQLPYDH unknown
KIT K623M loss of function
KIT K642E gain of function KIT Inhibitor
KIT K642E KIT N822K
KIT K642E KIT N822Y
KIT K642N unknown
KIT K642Q unknown
KIT K818R unknown
KIT L117I no effect - predicted
KIT L416fs loss of function - predicted
KIT L576del gain of function - predicted KIT Inhibitor
KIT L576F unknown
KIT L576P gain of function KIT Inhibitor
KIT W557R KIT L576P
KIT L576R unknown
KIT L576_H580dup unknown
KIT L576_K581dup unknown
KIT L576_P585dup unknown
KIT L631F unknown
KIT L813_A814insHIV unknown
KIT L813_V824dup unknown
KIT L859F unknown
KIT L859S unknown
KIT M1? unknown
KIT M537L unknown
KIT M541L unknown
KIT M541V unknown
KIT M552L unknown
KIT M552_D572del gain of function - predicted KIT Inhibitor
KIT M552_D572del KIT V654A
KIT M552_E554del gain of function - predicted KIT Inhibitor
KIT M552_E554delinsI gain of function - predicted KIT Inhibitor
KIT M552_E554delinsK gain of function - predicted KIT Inhibitor
KIT M552_E554delinsK KIT V654A
KIT M552_K558del gain of function - predicted KIT Inhibitor
KIT M552_Q556del gain of function - predicted KIT Inhibitor
KIT M552_V555del gain of function - predicted KIT Inhibitor
KIT M552_V555delinsI gain of function - predicted KIT Inhibitor
KIT M552_V559del gain of function - predicted KIT Inhibitor
KIT P551I KIT M552_V559del
KIT P551I KIT M552_V559del KIT Y823D
KIT M552_V559delinsI gain of function - predicted KIT Inhibitor
KIT M552_W557del gain of function - predicted KIT Inhibitor
KIT M552_Y553del gain of function - predicted KIT Inhibitor
KIT M552_Y570del gain of function - predicted KIT Inhibitor
KIT M722V no effect - predicted
KIT mutant unknown
KIT N320fs loss of function - predicted
KIT N463S unknown
KIT N505I gain of function KIT Inhibitor
KIT N560_Y574del gain of function - predicted
KIT N560_Y574del KIT V654A
KIT N564_L576del gain of function - predicted KIT Inhibitor
KIT N564_Y578del gain of function - predicted KIT Inhibitor
KIT N564_Y578del KIT V654A
KIT N566D unknown
KIT N566_P573del gain of function - predicted KIT Inhibitor
KIT N567K unknown
KIT N567_P573del gain of function - predicted KIT Inhibitor
KIT N655K gain of function - predicted KIT Inhibitor
KIT N80S unknown
KIT N822D unknown
KIT W557_E561del KIT N822D
KIT N822H unknown
KIT N822I gain of function KIT Inhibitor
KIT V559X KIT N822I
KIT N822K gain of function KIT Inhibitor Avapritinib
KIT W557_K558del KIT N822K
KIT V559D KIT N822K
KIT W557_K558delinsCE KIT N822K
KIT V569_L576del KIT V654A KIT N822K
KIT V560del KIT N822K
KIT V555_D572del KIT N822K
KIT V559_T574del KIT N822K
KIT N822Y gain of function - predicted KIT Inhibitor
KIT V555_D572del KIT N822Y
KIT negative loss of function
KIT over exp no effect
KIT V560del KIT over exp
KIT P551H unknown
KIT P551I unknown
KIT P551L unknown
KIT P551_E554del gain of function - predicted KIT Inhibitor
KIT P551_E554delinsQ gain of function - predicted
KIT P551_K558del gain of function - predicted
KIT P551_K558delinsQ gain of function - predicted KIT Inhibitor
KIT P551_M552delinsL gain of function - predicted KIT Inhibitor
KIT P551_Q556del gain of function - predicted KIT Inhibitor
KIT P551_V555del gain of function KIT Inhibitor
KIT P551_V555delinsTL gain of function - predicted KIT Inhibitor
KIT P551_W557delinsL gain of function - predicted KIT Inhibitor
KIT P551_Y553delinsH gain of function - predicted KIT Inhibitor
KIT P573L unknown
KIT P577del gain of function - predicted KIT Inhibitor
KIT P577S unknown
KIT P577_D579del gain of function - predicted KIT Inhibitor
KIT P577_E583dup unknown
KIT P577_H580dup unknown
KIT P754fs loss of function - predicted
KIT P838L unknown
KIT P838S no effect - predicted
KIT P874L unknown
KIT P875L unknown
KIT positive unknown KIT Inhibitor
BRAF wild-type KIT pos
KIT Q556_D572del gain of function - predicted KIT Inhibitor
KIT Q556_I571del gain of function - predicted KIT Inhibitor
KIT Q556_I571del KIT V654A
KIT Q556_K558del gain of function - predicted KIT Inhibitor
KIT Q556_K558delinsE gain of function - predicted
KIT Q556_K558delinsE KIT V654A KIT Y823H
KIT Q556_L576del gain of function - predicted KIT Inhibitor
KIT Q556_V559del gain of function - predicted KIT Inhibitor
KIT Q556_V559delinsH gain of function - predicted KIT Inhibitor
KIT Q556_V559delinsH KIT T670I
KIT Q556_V559delinsH KIT Y823D
KIT Q556_V559delinsHT gain of function - predicted KIT Inhibitor
KIT Q556_V559delinsHT KIT V654A
KIT Q556_V560del gain of function - predicted KIT Inhibitor
KIT Q556_V560delinsH gain of function - predicted KIT Inhibitor
KIT Q556_W557del gain of function - predicted KIT Inhibitor
KIT Q556_W557del KIT V654A
KIT Q575del gain of function - predicted
KIT R135H no effect - predicted
KIT R634L unknown
KIT R634W gain of function KIT Inhibitor
KIT R686C loss of function - predicted
KIT R796G loss of function
KIT R804W unknown
KIT R888Q loss of function - predicted
KIT R888W unknown
KIT rearrange unknown
KIT S197* loss of function - predicted
KIT S476I gain of function KIT Inhibitor
KIT S501_A502dup gain of function - predicted KIT Inhibitor
KIT S501_A502insSAY gain of function - predicted KIT Inhibitor
KIT S628N gain of function KIT Inhibitor
KIT S645_L647dup unknown
KIT S709F unknown
KIT S715del unknown
KIT T22A unknown
KIT T274M loss of function - predicted
KIT T417_D419delinsI gain of function - predicted KIT Inhibitor
KIT T417_D419delinsRA gain of function - predicted KIT Inhibitor
KIT T417_D419delinsY gain of function KIT Inhibitor
KIT T417_Y418delinsH gain of function - predicted KIT Inhibitor
KIT T574_H580dup unknown
KIT T574_P577del gain of function - predicted
KIT T632I unknown
KIT T670A unknown
KIT T670E unknown
KIT T670I gain of function KIT Inhibitor
KIT W557_K558del KIT T670I
KIT V560_Y578del KIT T670I
KIT V560D KIT T670I
KIT V559D KIT T670I
CTNNB1 del exon3-4 KIT V559D KIT T670I
CTNNB1 mut KIT V559D KIT T670I
KIT V559_E561del KIT T670I
KIT T670S unknown
KIT T670V unknown
KIT T67S unknown
KIT V399I unknown
KIT V530I gain of function KIT Inhibitor
KIT V532I unknown
KIT V555I unknown
KIT V555_D572del gain of function - predicted KIT Inhibitor
KIT V555_E562del gain of function - predicted KIT Inhibitor
KIT V555_I571del gain of function - predicted KIT Inhibitor
KIT V555_L576del gain of function - predicted
KIT V555_P573del gain of function - predicted KIT Inhibitor
KIT V555_Q556del gain of function - predicted KIT Inhibitor
KIT V555_V560del gain of function - predicted KIT Inhibitor
KIT V559A gain of function KIT Inhibitor
KIT V559C unknown
KIT V559D gain of function KIT Inhibitor
KIT V559D KIT V654A
KIT V559D KIT Y823D
KIT V559fs loss of function - predicted
KIT V559G unknown KIT Inhibitor
KIT V559I gain of function KIT Inhibitor
KIT V559K unknown KIT Inhibitor
KIT V559X unknown
KIT V559_E561del gain of function - predicted KIT Inhibitor
KIT V559_G565del gain of function - predicted KIT Inhibitor
KIT V559_N566delinsD gain of function - predicted KIT Inhibitor
KIT V559_P573del gain of function - predicted KIT Inhibitor
KIT V559_T574del gain of function - predicted KIT Inhibitor
KIT V559_T574del KIT V654A
KIT V559_V560del gain of function KIT Inhibitor
KIT V559_V560delinsS gain of function - predicted KIT Inhibitor
KIT V560A gain of function - predicted KIT Inhibitor
KIT V560D gain of function KIT Inhibitor
KIT V560D KIT V654A
KIT V560del gain of function KIT Inhibitor
KIT V560del KIT V654A
KIT V560dup unknown
KIT V560E unknown KIT Inhibitor
KIT V560G gain of function KIT Inhibitor
KIT V560_D572del gain of function - predicted KIT Inhibitor
KIT V560_L576del gain of function - predicted KIT Inhibitor
KIT V560_L576del KIT V654A
KIT V560_Y578del gain of function - predicted KIT Inhibitor
KIT V560_Y578del KIT V654A
KIT V569_L576del gain of function - predicted KIT Inhibitor
KIT V603D unknown
KIT V643A unknown
KIT V654A unknown
KIT W557_K558del KIT V654A
KIT W557_E561del KIT V654A
KIT V654G unknown
KIT V654X unknown
KIT V825A unknown KIT Inhibitor
KIT V825I unknown
KIT V852I no effect - predicted
KIT W557C unknown KIT Inhibitor
KIT W557C KIT Y578C
KIT W557del gain of function - predicted KIT Inhibitor
KIT W557F unknown
KIT W557G gain of function - predicted KIT Inhibitor
KIT W557Lfs*5 loss of function - predicted
KIT W557R unknown KIT Inhibitor
KIT W557S unknown KIT Inhibitor
KIT W557_E561del gain of function - predicted KIT Inhibitor
KIT W557_K558del gain of function KIT Inhibitor
KIT W557_K558del KIT Y823D
KIT W557_K558delinsC gain of function - predicted KIT Inhibitor
KIT W557_K558delinsCE gain of function - predicted
KIT W557_K558delinsE gain of function - predicted KIT Inhibitor
KIT W557_K558delinsF gain of function - predicted KIT Inhibitor
KIT W557_Q575del gain of function - predicted KIT Inhibitor
KIT W557_V559del gain of function - predicted KIT Inhibitor
KIT W557_V559delinsC gain of function - predicted
KIT W557_V559delinsF gain of function - predicted
KIT W557_V560del gain of function - predicted KIT Inhibitor
KIT W582* loss of function - predicted
KIT W853* unknown
KIT wild-type no effect
KIT Y418_D419delinsG gain of function - predicted KIT Inhibitor
KIT Y418_D419delinsS gain of function - predicted KIT Inhibitor
KIT Y503delinsFAH unknown
KIT Y553C unknown
KIT Y553D unknown
KIT Y553N unknown KIT Inhibitor
KIT Y553S unknown
KIT Y553_E554del gain of function - predicted KIT Inhibitor
KIT Y553_E561delinsLK gain of function - predicted KIT Inhibitor
KIT Y553_K558del gain of function - predicted KIT Inhibitor
KIT Y553_Q556del gain of function KIT Inhibitor
KIT Y553_W557del gain of function - predicted KIT Inhibitor
KIT Y568D unknown
KIT Y568_L576delinsCV gain of function - predicted KIT Inhibitor
KIT Y568_T574del gain of function - predicted KIT Inhibitor
KIT Y570H unknown
KIT Y570_L576del gain of function - predicted KIT Inhibitor
KIT Y570_Y578del gain of function - predicted KIT Inhibitor
KIT Y578C gain of function - predicted KIT Inhibitor
KIT Y578_D579del gain of function - predicted KIT Inhibitor
KIT Y578_D579insEQQLPY unknown
KIT Y672C unknown
KIT Y823C unknown
KIT Y823D gain of function KIT Inhibitor
KIT Y823H unknown
KIT Y823N unknown KIT Inhibitor
KIT Y870* unknown