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Gene | KIT |
Variant | Y553N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT Y553N lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553N is predicted to stabilize the active conformation of Kit by structural modeling (PMID: 23588081), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon11 KIT Y553N |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727425T>A |
cDNA | c.1657T>A |
Protein | p.Y553N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017008178.1 | chr4:g.54727425T>A | c.1657T>A | p.Y553N | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727425T>A | c.1657T>A | p.Y553N | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727425T>A | c.1657T>A | p.Y553N | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727425T>A | c.1657T>A | p.Y553N | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727425T>A | c.1657T>A | p.Y553N | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54727425T>A | c.1657T>A | p.Y553N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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