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 M1024Ifs*4
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions FANCA M1024Ifs*4 indicates a shift in the reading frame starting at amino acid 1024 and terminating 4 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). M1024Ifs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of M1024 (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 M1024fs FANCA M1024Ifs*4

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.89749897_89749898insT
cDNA c.3071_3072insA
Protein p.M1024Ifs*4
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000135.3 chr16:g.89749897_89749898insT c.3071_3072insA p.M1024Ifs*4 RefSeq GRCh38/hg38
NM_001286167 chr16:g.89749897_89749898insG c.3071_3072insC p.M1024Ifs*4 RefSeq GRCh38/hg38
NM_000135 chr16:g.89749897_89749898insG c.3071_3072insC p.M1024Ifs*4 RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89749897_89749898insT c.3071_3072insA p.M1024Ifs*4 RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89749897_89749898insT c.3071_3072insA p.M1024Ifs*4 RefSeq GRCh38/hg38
XM_005256294 chr16:g.89749897_89749898insG c.3071_3072insC p.M1024Ifs*4 RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89749897_89749898insT c.3071_3072insA p.M1024Ifs*4 RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89749897_89749898insT c.3071_3072insA p.M1024Ifs*4 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