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Gene | FANCA |
Variant | K522R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA K522R does not lie within any known functional domains of the Fanca protein (UniProt.org). K522R demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture, however, the genomic change (c.1565A>G) leads to skipping of exon 16 which is predicted to result in an in-frame deletion of 32 amino acids of the Fanca protein in a Fanconi anemia patient sample (PMID: 29098742), and therefore, its effect on Fanca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA K522R |
Transcript | NM_000135.4 |
gDNA | chr16:g.89783008T>C |
cDNA | c.1565A>G |
Protein | p.K522R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023045 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89783008T>C | c.1565A>G | p.K522R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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