KIT Y672C - Gene Variant Detail

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Gene KIT
Variant Y672C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT Y672C lies within the protein kinase domain of the Kit protein (UniProt.org). Y672C is associated with decreased KIT inhibitor sensitivity when in the context of an activating KIT mutation in culture (PMID: 31270078), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon14 KIT Y672C

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Transcript NM_000222.3
gDNA chr4:g.54729359A>G
cDNA c.2015A>G
Protein p.Y672C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008179 chr4:g.54729368A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54729368A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54729368A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54729359A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54729359A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54729368A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54729368A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
XM_017008178 chr4:g.54729359A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
XM_005265742 chr4:g.54729368A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
NM_000222 chr4:g.54729359A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54729359A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54729359A>G c.2015A>G p.Y672C RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References