Gene Variant Detail

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Gene KIT
Variant S709F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT S709F lies within the protein kinase domain of the Kit protein (UniProt.org). S709F has been identified in the scientific literature (PMID: 30140695), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon14 KIT S709F

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Transcript NM_000222.3
gDNA chr4:g.54729470_54729471delCAinsTT
cDNA c.2126_2127delCAinsTT
Protein p.S709F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385292.1 chr4:g.54729479C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54729482C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54729470_54729471delCAinsTT c.2126_2127delCAinsTT p.S709F RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54729470_54729471delCAinsTT c.2126_2127delCAinsTT p.S709F RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54729482C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
XM_017008179 chr4:g.54729479C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
XM_017008178 chr4:g.54729470_54729471delCAinsTT c.2126_2127delCAinsTT p.S709F RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54729479C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54729479C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54729470_54729471delCAinsTT c.2126_2127delCAinsTT p.S709F RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54729482C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54729470_54729471delCAinsTT c.2126_2127delCAinsTT p.S709F RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54729482C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
NM_001093772 chr4:g.54729482C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
NM_000222 chr4:g.54729470_54729471delCAinsTT c.2126_2127delCAinsTT p.S709F RefSeq GRCh38/hg38
XM_005265742 chr4:g.54729479C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
XM_017008180 chr4:g.54729482C>T c.2126C>T p.S709F RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54729479C>T c.2126C>T p.S709F RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References