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Gene | CHEK1 |
Variant | L338S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK1 L338S does not lie within any known functional domains of the Chek1 protein (UniProt.org). L338S 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 L338S |
Transcript | NM_001114121.2 |
gDNA | chr11:g.125644180T>C |
cDNA | c.1013T>C |
Protein | p.L338S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001244846 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001114122 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001114122.3 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
XM_047426311.1 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
XM_024448337.1 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001114122.2 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001114121 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
XM_017017146.2 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
XM_017017146 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
XM_024448337.2 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001274 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125644180T>C | c.1013T>C | p.L338S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CHEK1 L338S | unknown |