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Gene CHEK1
Variant V439L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK1 V439L lies within the autoinhibitory region of the Chek1 protein (UniProt.org). V439L has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 V439L

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Transcript NM_001114121.2
gDNA chr11:g.125653827G>C
cDNA c.1315G>C
Protein p.V439L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001274.5 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
XM_017017146 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
NM_001114121 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
NM_001114122 chr11:g.125653827G>C c.1315G>C p.V439L RefSeq GRCh38/hg38
NM_001274 chr11:g.125653827G>C c.1315G>C p.V439L 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