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Gene | FANCL |
Variant | T367Nfs*13 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCL T367Nfs*13 indicates a shift in the reading frame starting at amino acid 367 and terminating 13 residues downstream, resulting in premature truncation of the functional protein and extension of the 375aa Fancl protein length by 5 amino acids (UniProt.org). T367Nfs*13 demonstrates decreased affinity for other Fanconi anemia proteins compared to wild-type Fancl, and results in a partial rescue of DNA damaging agent-induced cell-cycle arrest and chromosomal defects in cells lacking Fancl in culture (PMID: 19405097), and therefore is predicted to result in a loss of Fancl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL inact mut FANCL T367fs FANCL T367Nfs*13 |
Transcript | NM_018062.4 |
gDNA | chr2:g.58159794_58159795insGGGGGGGTT |
cDNA | c.1099_1100insACCCCCCCA |
Protein | p.T367Nfs*13 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532939.3 | chr2:g.(58160120_58160161) | c.(1099_1140) | p.T367Nfs*13 | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58159793_58159794insGGGGGGGGT | c.1099_1100insACCCCCCCC | p.T367Nfs*13 | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58159794_58159795insGGGGGGGTT | c.1099_1100insACCCCCCCA | p.T367Nfs*13 | RefSeq | GRCh38/hg38 |
NM_001410792.1 | chr2:g.(58160120_58160161) | c.(1099_1140) | p.T367Nfs*13 | RefSeq | GRCh38/hg38 |
XM_011532941 | chr2:g.(58160120_58160161) | c.(1099_1140) | p.T367Nfs*13 | RefSeq | GRCh38/hg38 |
XM_011532939 | chr2:g.(58160120_58160161) | c.(1099_1140) | p.T367Nfs*13 | RefSeq | GRCh38/hg38 |
XM_011532941.2 | chr2:g.(58160120_58160161) | c.(1099_1140) | p.T367Nfs*13 | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58159794_58159795insGGGGGGGTT | c.1099_1100insACCCCCCCA | p.T367Nfs*13 | RefSeq | GRCh38/hg38 |
XM_011532939.4 | chr2:g.(58160120_58160161) | c.(1099_1140) | p.T367Nfs*13 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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