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Gene | KIT |
Variant | Y418_D419delinsG |
Impact List | indel |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT Y418_D419delinsG results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 418 to 419, combined with the insertion of a glycine (G) at the same site (UniProt.org). Y418_D419delinsG has not been characterized, however similar Kit exon 8 mutations are activating (PMID: 16015387, PMID: 20484085), and therefore, is predicted to lead to a gain of Kit protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT Y418_D419delinsG KIT mutant KIT exon8 KIT Y418_D419delinsG |
Transcript | NM_000222.3 |
gDNA | chr4:g.54723604_54723609delinsGGT |
cDNA | c.1252_1257delinsGGT |
Protein | p.Y418_D419delinsG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017008178.1 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
XM_017008180.1 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
XM_017008180 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
NM_001385286.1 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
NM_001093772.1 | chr4:g.54723604_54723609delinsGGT | c.1252_1257delinsGGT | p.Y418_D419delinsG | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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