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 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|