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Gene | FANCA |
Variant | E1214Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA E1214Q does not lie within any known functional domains of the Fanca protein (UniProt.org). E1214Q 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 E1214Q |
Transcript | NM_000135.4 |
gDNA | chr16:g.89742925C>G |
cDNA | c.3640G>C |
Protein | p.E1214Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.3 | chr16:g.89742925C>G | c.3640G>C | p.E1214Q | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89742925C>G | c.3640G>C | p.E1214Q | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89742925C>G | c.3640G>C | p.E1214Q | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89742925C>G | c.3640G>C | p.E1214Q | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89742925C>G | c.3640G>C | p.E1214Q | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89742925C>G | c.3640G>C | p.E1214Q | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89742925C>G | c.3640G>C | p.E1214Q | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89742925C>G | c.3640G>C | p.E1214Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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