FANCL I336_C337delinsS
Gene Variant Detail

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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 binding 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

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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
XM_005264395.4 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_005264395.5 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
NM_018062.4 chr2:g.58161533_58161535delATA c.1007_1009delTAT p.I336_C337delinsS RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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