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, 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

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Transcript NM_000135
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
XM_005256294 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 chr16:g.89748744G>A c.3263C>T p.S1088F RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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
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
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
FANCA S1088F unknown