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Gene | FANCA |
Variant | K453N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA K453N does not lie within any known functional domains of the Fanca protein (UniProt.org). K453N 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 K453N |
Transcript | NM_000135.4 |
gDNA | chr16:g.89791403C>G |
cDNA | c.1359G>C |
Protein | p.K453N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89791403C>G | c.1359G>C | p.K453N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FANCA K453N | unknown |