FANCA E1252K
Gene Variant Detail

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Gene FANCA
Variant E1252K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA E1252K does not lie within any known functional domains of the Fanca protein (UniProt.org). E1252K has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA E1252K

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Transcript NM_000135.4
gDNA chr16:g.89742811C>T
cDNA c.3754G>A
Protein p.E1252K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167 chr16:g.89742811C>T c.3754G>A p.E1252K RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89742811C>T c.3754G>A p.E1252K RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89742811C>T c.3754G>A p.E1252K RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89742811C>T c.3754G>A p.E1252K RefSeq GRCh38/hg38
NM_000135 chr16:g.89742811C>T c.3754G>A p.E1252K RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89742811C>T c.3754G>A p.E1252K RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89742811C>T c.3754G>A p.E1252K RefSeq GRCh38/hg38
XM_005256294 chr16:g.89742811C>T c.3754G>A p.E1252K 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

  • 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 Protein Effect Treatment Approaches
FANCA E1252K unknown