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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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Variant Impact Protein Effect Variant Description Associated with drug Resistance
D816X missense unknown KIT D816X indicates any Kit missense mutation that results in the replacement of the aspartic acid (D) at amino acid 816 by a different amino acid.
V559X missense unknown KIT V559X indicates any Kit missense mutation that results in the replacement of the valine (V) at amino acid 559 by a different amino acid.
V654X missense unknown KIT V654X indicates any KIT missense mutation that results in the replacement of the valine (V) at amino acid 654 by a different amino acid.
act mut unknown gain of function KIT act mut indicates that this variant results in a gain of function in the Kit protein. However, the specific amino acid change has not been identified.
exon 11 del deletion gain of function KIT exon 11 deletions are in-frame deletions within the juxtamembrane domain of the Kit protein (PMID: 26349547). KIT exon 11 deletions are associated with constitutive activation of Kit (PMID: 9438854, PMID: 15365079).
exon 9 ins indel unknown KIT exon 9 insertions are in-frame insertions within the Ig-like C2-type domain 5 of Kit.
exon11 unknown unknown KIT exon 11 (amino acids 550-592) indicates an unspecified mutation within the juxtamembrane domain has occurred in exon 11 of the KIT gene.
exon13 unknown unknown KIT exon 13 (amino acids 627-664) indicates an unspecified mutation has occurred in exon 13 of the KIT gene.
exon14 unknown unknown KIT exon 14 (amino acids 664-713) indicates an unspecified mutation has occurred in exon 14 of the KIT gene.
exon17 unknown unknown KIT exon 17 (amino acids 788-828) indicates an unspecified mutation has occurred in exon 17 of the KIT gene.
exon18 unknown unknown KIT exon 18 (amino acids 829-866) indicates an unspecified mutation has occurred in exon 18 of the KIT gene.
exon8 unknown unknown KIT exon 8 (amino acids 411-449) indicates an unspecified mutation has occurred in exon 8 of the KIT gene.
exon9 unknown unknown KIT exon 9 (amino acids 449-514) indicates an unspecified mutation has occurred in exon 9 of the KIT gene.
fusion fusion unknown KIT fusion indicates a fusion of the KIT gene, but the fusion partner is unknown.
mutant unknown unknown KIT mutant indicates an unspecified mutation in the KIT gene.
rearrange unknown unknown KIT rearrangement indicates an unspecified rearrangement of the KIT gene.
E561fs frameshift loss of function - predicted KIT E561fs results in a change in the amino acid sequence of the Kit protein beginning at aa 561 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E561fs is predicted to lead to a loss of Kit protein function.
L416fs frameshift loss of function - predicted KIT L416fs results in a change in the amino acid sequence of the Kit protein beginning at aa 416 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), L416fs is predicted to lead to a loss of Kit protein function.
N320fs frameshift loss of function - predicted KIT N320fs results in a change in the amino acid sequence of the Kit protein beginning at aa 320 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), N320fs is predicted to lead to a loss of Kit protein function.
P754fs frameshift loss of function - predicted KIT P754fs results in a change in the amino acid sequence of the Kit protein beginning at aa 754 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the protein kinase domain (UniProt.org), P754fs is predicted to lead to a loss of Kit protein function.
V559fs frameshift loss of function - predicted KIT V559fs results in a change in the amino acid sequence of the Kit protein beginning at aa 559 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), V559fs is predicted to lead to a loss of Kit protein function.