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Gene CHEK1
Variant V312M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK1 V312M does not lie within any known functional domains of the Chek1 protein (UniProt.org). V312M has been identified in sequencing studies (PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 V312M

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Transcript NM_001114121.2
gDNA chr11:g.125644101G>A
cDNA c.934G>A
Protein p.V312M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001274 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001244846 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001114121 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
XM_017017146 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38
NM_001114122 chr11:g.125644101G>A c.934G>A p.V312M RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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