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Gene | FANCL |
Variant | T367fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCL T367fs results in a change in the amino acid sequence of the Fancl protein beginning at aa 367 of 375, likely resulting in premature truncation of the functional protein (UniProt.org). T367fs 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 |
Transcript | NM_018062.4 |
gDNA | chr2:g.(58159794_58159795) |
cDNA | c.(1099_1098) |
Protein | p.T367fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062 | chr2:g.(58159794_58159795) | c.(1099_1098) | p.T367fs | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.(58159794_58159795) | c.(1099_1098) | p.T367fs | RefSeq | GRCh38/hg38 |
XM_011532939.3 | chr2:g.(58160161_58160162) | c.(1099_1098) | p.T367fs | RefSeq | GRCh38/hg38 |
XM_011532941.2 | chr2:g.(58160161_58160162) | c.(1099_1098) | p.T367fs | RefSeq | GRCh38/hg38 |
XM_011532939.4 | chr2:g.(58160161_58160162) | c.(1099_1098) | p.T367fs | RefSeq | GRCh38/hg38 |
NM_001410792.1 | chr2:g.(58160161_58160162) | c.(1099_1098) | p.T367fs | RefSeq | GRCh38/hg38 |
XM_011532939 | chr2:g.(58160161_58160162) | c.(1099_1098) | p.T367fs | RefSeq | GRCh38/hg38 |
XM_011532941 | chr2:g.(58160161_58160162) | c.(1099_1098) | p.T367fs | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.(58159794_58159795) | c.(1099_1098) | p.T367fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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