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 | A40E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA A40E does not lie within any known functional domains of the Fanca protein (UniProt.org). A40E has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA A40E |
Transcript | NM_000135.4 |
gDNA | chr16:g.89815947G>T |
cDNA | c.119C>A |
Protein | p.A40E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.4 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_017023046 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_001018112.2 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_001018112 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_017023046.1 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_001351830.2 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_001351830.1 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_001018112.3 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89815947G>T | c.119C>A | p.A40E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|