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Gene | FANCL |
Variant | I336_C337delinsS |
Impact List | indel |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCL I336_C337delinsS results in a deletion of two amino acids in the RING-type Zinc finger domain of the Fancl protein from amino acids 336 to 337, combined with the insertion of a serine (S) at the same site (UniProt.org). I336_C337delinsS results in decreased bonding to core complex factors and failure to rescue cell-cycle arrest, FANCD2 monoubiquitination, MMC sensitivity, and chromosomal breakage in Fancl-null cells in culture (PMID: 19405097). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL inact mut FANCL I336_C337delinsS |
Transcript | NM_018062.4 |
gDNA | chr2:g.58161533_58161535delATA |
cDNA | c.1007_1009delTAT |
Protein | p.I336_C337delinsS |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062.4 | chr2:g.58161533_58161535delATA | c.1007_1009delTAT | p.I336_C337delinsS | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58161533_58161535delATA | c.1007_1009delTAT | p.I336_C337delinsS | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58161533_58161535delATA | c.1007_1009delTAT | p.I336_C337delinsS | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58161533_58161535delATA | c.1007_1009delTAT | p.I336_C337delinsS | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58161533_58161535delATA | c.1007_1009delTAT | p.I336_C337delinsS | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58161533_58161535delATA | c.1007_1009delTAT | p.I336_C337delinsS | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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