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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 |
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 | 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_001114122.3 | 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 |
XM_024448337.2 | 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_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_017017146 | 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 |
XM_047426311.1 | 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_001274.5 | chr11:g.125653827G>C | c.1315G>C | p.V439L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CHEK1 V439L | unknown |