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Gene | KIT |
Variant | A621S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT A621S lies within the protein kinase domain of the Kit protein (UniProt.org). A621S has been identified in sequencing studies (PMID: 34476097), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT A621S |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727909G>T |
cDNA | c.1861G>T |
Protein | p.A621S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017008178.1 | chr4:g.54727909G>T | c.1861G>T | p.A621S | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727909G>T | c.1861G>T | p.A621S | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727909G>T | c.1861G>T | p.A621S | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727909G>T | c.1861G>T | p.A621S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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