FANCA E542A
Gene Variant Detail

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Gene FANCA
Variant E542A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA E542A does not lie within any known functional domains of the Fanca protein (UniProt.org). E542A has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA E542A

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Transcript NM_000135.4
gDNA chr16:g.89782860T>G
cDNA c.1625A>C
Protein p.E542A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023044 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
NM_001286167 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
XM_017023045 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
NM_000135 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
XM_011522945 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
XM_011522948 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
XM_005256294 chr16:g.89782860T>G c.1625A>C p.E542A RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89782860T>G c.1625A>C p.E542A 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FANCA E542A unknown