Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene FANCA
Variant Q286Rfs*10
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions FANCA Q286Rfs*10 indicates a shift in the reading frame starting at amino acid 286 and terminating 10 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Q286Rfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of Q286 (PMID: 24349332, PMID: 30057198, PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA Q286Rfs*10

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.

Transcript NM_000135.4
gDNA chr16:g.89799202delT
cDNA c.857delA
Protein p.Q286Rfs*10
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023045.1 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
XM_017023046.1 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
NM_001018112.3 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
NM_001018112.2 chr16:g.89799202delT c.857delA p.Q286Rfs*10 RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89799202delT c.857delA p.Q286Rfs*10 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References