CHEK2 S422Vfs*15
Gene Variant Detail

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Gene CHEK2
Variant S422Vfs*15
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 S422Vfs*15 indicates a shift in the reading frame starting at amino acid 422 and terminating 15 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). S422Vfs*15 results in decreased Kap1 phosphorylation at (S)-473 in cell culture (PMID: 34903604), and therefore, is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 S422Vfs*15

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Transcript NM_007194.4
gDNA chr22:g.28695238delT
cDNA c.1264delA
Protein p.S422Vfs*15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529840.4 chr22:g.28695777_28695778insTTGGGGGGGGGGGGGGGGGGAC c.1263_1264insGTCCCCCCCCCCCCCCCCCCAA p.S422Vfs*15 RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695238delT c.1264delA p.S422Vfs*15 RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28695735_28695736insTTGGGGGGGGGAC c.1263_1264insGTCCCCCCCCCAA p.S422Vfs*15 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695238delT c.1264delA p.S422Vfs*15 RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.(28695787_28695834) c.(1264_1311) p.S422Vfs*15 RefSeq GRCh38/hg38

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