Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | KIT |
Variant | T670I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT T670I lies within the ATP pocket in the protein kinase domain of the Kit protein (PMID: 15236194, PMID: 22355224). T670I confers a gain of function on Kit as indicated by constitutive Kit phosphorylation, is transforming in cultured cells, and is associated with resistance to Kit inhibitors (PMID: 17699867, PMID: 15236194). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT act mut KIT T670I KIT mutant KIT exon14 KIT T670I |
Transcript | NM_000222.3 |
gDNA | chr4:g.54729353C>T |
cDNA | c.2009C>T |
Protein | p.T670I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385285.1 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54729353C>T | c.2009C>T | p.T670I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
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 | ||
KIT exon11 KIT T670I | ||
KIT T670I KIT D816V | ||
KIT exon 11 del KIT T670I | ||
CTNNB1 del exon3-4 KIT V559D KIT T670I | ||
CTNNB1 mut KIT V559D KIT T670I | ||
KIT V559_E561del KIT T670I | ||
KIT Q556_V559delinsH KIT T670I |