FANCA Q1307Sfs*6 - Gene Variant Detail

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Gene FANCA
Variant Q1307Sfs*6
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions FANCA Q1307Sfs*6 indicates a shift in the reading frame starting at amino acid 1307 and terminating 6 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Q1307Sfs*6 has been identified in the scientific literature (PMID: 36181052), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2024).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA Q1307Sfs*6

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Transcript NM_000135.4
gDNA chr16:g.89740012dupA
cDNA c.3918dupT
Protein p.Q1307Sfs*6
Source Database RefSeq
Genome Build 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.