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Gene | KIT |
Variant | L576_P585dup |
Impact List | duplication |
Protein Effect | unknown |
Gene Variant Descriptions | KIT L576_P585dup (also referred to as P585_R586insLPYDHKWEFP) indicates the insertion of 10 duplicate amino acids, leucine (L)-576 through proline (P)-585, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). L576_P585dup has been identified in sequencing studies (PMID: 26822237), 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 exon11 KIT L576_P585dup |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727494_54727523 |
cDNA | c.1726_1755 |
Protein | p.L576_P585 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017008178.1 | chr4:g.54727494_54727523 | c.1726_1755 | p.L576_P585 | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727494_54727523 | c.1726_1755 | p.L576_P585 | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54727494_54727523 | c.1726_1755 | p.L576_P585 | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727494_54727523 | c.1726_1755 | p.L576_P585 | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727494_54727523 | c.1726_1755 | p.L576_P585 | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727494_54727523 | c.1726_1755 | p.L576_P585 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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