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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

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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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References