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 | Q168E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA Q168E does not lie within any known functional domains of the Fanca protein (UniProt.org). Q168E has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA Q168E |
Transcript | NM_000135.4 |
gDNA | chr16:g.89810727G>C |
cDNA | c.502C>G |
Protein | p.Q168E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023045.1 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
NM_001018112 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_017023046.1 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_017023046 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
NM_001018112.3 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
NM_001018112.2 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89810727G>C | c.502C>G | p.Q168E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|