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Gene | CHEK2 |
Variant | L226F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 L226F lies within the protein kinase domain of the Chek2 protein (UniProt.org). L226F has been identified in sequencing studies (PMID: 27442865), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 L226F |
Transcript | NM_007194.4 |
gDNA | chr22:g.28719402G>A |
cDNA | c.676C>T |
Protein | p.L226F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_145862.2 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
XM_006724114 | chr22:g.28695844C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
XM_024452149.1 | chr22:g.28719430T>A | c.678A>T | p.L226F | RefSeq | GRCh38/hg38 |
XM_006724114.3 | chr22:g.28695844C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
XM_024452149.2 | chr22:g.28719430T>A | c.678A>T | p.L226F | RefSeq | GRCh38/hg38 |
XM_024452148.1 | chr22:g.28719430T>A | c.678A>T | p.L226F | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
XM_024452148.2 | chr22:g.28719430T>A | c.678A>T | p.L226F | RefSeq | GRCh38/hg38 |
XM_047441105.1 | chr22:g.28725020C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
NM_001005735 | chr22:g.28725020C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
NM_001005735.1 | chr22:g.28725020C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
NM_001005735.2 | chr22:g.28725020C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CHEK2 L226F | unknown |