FANCA L1320del
Gene Variant Detail

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Gene FANCA
Variant L1320del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions FANCA L1320del results in the deletion of an amino acid in the Fanca protein at amino acid 1320 (UniProt.org). L1320del has been identified in sequencing studies (PMID: 27748766, PMID: 26487540), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA L1320del

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Transcript NM_000135.4
gDNA chr16:g.89739534_89739536delGAG
cDNA c.3959_3961delTCC
Protein p.L1320delL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005256294.4 chr16:g.89739534_89739536delGAG c.3959_3961delTCC p.L1320del RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89739534_89739536delGAG c.3959_3961delTCC p.L1320delL RefSeq GRCh38/hg38
XM_005256294 chr16:g.89739534_89739536delGAG c.3959_3961delTCC p.L1320del RefSeq GRCh38/hg38
NM_001286167 chr16:g.89739534_89739536delGAG c.3959_3961delTCC p.L1320del RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89739534_89739536delGAG c.3959_3961delTCC p.L1320del RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89739534_89739536delGAG c.3959_3961delTCC p.L1320del RefSeq GRCh38/hg38
NM_000135 chr16:g.89739534_89739536delGAG c.3959_3961delTCC p.L1320del RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89739534_89739536delGAG c.3959_3961delTCC p.L1320delL 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