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 | Q99* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | FANCA Q99* results in a premature truncation of the Fanca protein at amino acid 99 of 1455 (UniProt.org). Q99* fails to restore Fancd2 monoubiquitination and confer resistance to mitomycin C-induced cell death and G2/M cell cycle block in FANCA-null cells in culture (PMID: 31586946). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA Q99* |
Transcript | NM_000135.4 |
gDNA | chr16:g.89811060G>A |
cDNA | c.295C>T |
Protein | p.Q99* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011522948.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001018112.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001018112 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001351830.1 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023046.1 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001351830.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001018112.3 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_017023046 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89811060G>A | c.295C>T | p.Q99* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|