• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Val560_Tyr578del (c.1679_1735del); Zygosity=Heterozygous (PubMed=25239608).
  
• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Asp820Glu (c.2460T>A) (D816E); ClinVar=VCV000375929; Zygosity=Heterozygous (PubMed=25239608).
  

PubMed=25239608; DOI=10.1158/1078-0432.CCR-14-1397; PMCID=PMC4233175
Garner A.P., Gozgit J.M., Anjum R., Vodala S., Schrock A.B., Zhou T.-J., Serrano C., Eilers G., Zhu M.-J., Ketzer J., Wardwell S., Ning Y., Song Y., Kohlmann A., Wang F., Clackson T., Heinrich M.C., Fletcher J.A., Bauer S., Rivera V.M.
Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.
Clin. Cancer Res. 20:5745-5755(2014)

PubMed=29866822; DOI=10.1073/pnas.1802079115; PMCID=PMC6016782
Hemming M.L., Lawlor M.A., Zeid R., Lesluyes T., Fletcher J.A., Raut C.P., Sicinska E.T., Chibon F., Armstrong S.A., Demetri G.D., Bradner J.E.
Gastrointestinal stromal tumor enhancers support a transcription factor network predictive of clinical outcome.
Proc. Natl. Acad. Sci. U.S.A. 115:E5746-E5755(2018)

PubMed=32736695; DOI=10.1016/j.bbrc.2020.05.174
Cho W.-C., Shin Y.-K., Na Y.-S., Ryu M.-H., Ku J.-L., Kang Y.-K.
The role of novel fusion genes in human GIST cell lines derived from imatinib-resistant GIST patients: a therapeutic potential of fusion gene.
Biochem. Biophys. Res. Commun. 529:699-706(2020)