FANCA S1088F
Gene Variant Detail

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Gene FANCA
Variant S1088F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA S1088F lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). The functional effect of S1088F is conflicting as it results in decreased Fancd2 and Fanci monoubiquitination and decreased DNA repair in response to mitomycin C treatment in culture in one study (PMID: 28864460), but restores Fancd2 monoubiquitination and confers resistance to mitomycin C-induced cell death and G2/M cell cycle block to levels similar of wild-type protein in FANCA-null cells in another study (PMID: 31586946).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA S1088F

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Transcript NM_000135.4
gDNA chr16:g.89748744G>A
cDNA c.3263C>T
Protein p.S1088F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.3 chr16:g.89748744G>A c.3263C>T p.S1088F RefSeq GRCh38/hg38
XM_005256294 chr16:g.89748744G>A c.3263C>T p.S1088F RefSeq GRCh38/hg38
NM_000135 chr16:g.89748744G>A c.3263C>T p.S1088F RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89748744G>A c.3263C>T p.S1088F RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89748744G>A c.3263C>T p.S1088F RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89748744G>A c.3263C>T p.S1088F RefSeq GRCh38/hg38
NM_001286167 chr16:g.89748744G>A c.3263C>T p.S1088F RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89748744G>A c.3263C>T p.S1088F 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FANCA S1088F Advanced Solid Tumor sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, overexpression of FANCA S1088F in FANCA-null cells derived from Fanconi anemia patients resulted in increased sensitivity to Platinol (cisplatin) compared to wild-type Fanca expression in culture (PMID: 28864460). 28864460
FANCA S1088F prostate cancer predicted - sensitive Olaparib Preclinical - Pdx Actionable In a preclinical study, overexpression of FANCA S1088F in FANCA-null cells derived from Fanconi anemia patients resulted in increased sensitivity to Lynparza (olaparib) in culture, and a patient-derived xenograft (PDX) model of prostate cancer harboring germline FANCA S1088F demonstrated enhanced sensitivity to Lynparza (olaparib) treatment (PMID: 28864460). 28864460