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Gene | KIT |
Variant | A402S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT A402S lies within Ig-like C2-type domain 4 of the Kit protein (UniProt.org). A402S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT A402S |
Transcript | NM_000222.3 |
gDNA | chr4:g.54709512G>T |
cDNA | c.1204G>T |
Protein | p.A402S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001093772.1 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_017008179.1 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_017008179 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_005265742 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_001385286.1 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_017008180.1 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_001385284.1 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_005265740.1 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_001385288.1 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_017008180 | chr4:g.54709512G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_005265740 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
XM_005265742.3 | chr4:g.54709509G>T | c.1204G>T | p.A402S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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