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| Gene | FANCA |
| Variant | L1082F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FANCA L1082F lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). L1082F has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
FANCA mutant FANCA L1082F |
| Transcript | NM_000135.4 |
| gDNA | chr16:g.89748763G>A |
| cDNA | c.3244C>T |
| Protein | p.L1082F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001286167.2 | chr16:g.89748763G>A | c.3244C>T | p.L1082F | RefSeq | GRCh38/hg38 |
| NM_000135.4 | chr16:g.89748763G>A | c.3244C>T | p.L1082F | RefSeq | GRCh38/hg38 |
| NM_001286167 | chr16:g.89748763G>A | c.3244C>T | p.L1082F | RefSeq | GRCh38/hg38 |
| XM_005256294.4 | chr16:g.89748763G>A | c.3244C>T | p.L1082F | RefSeq | GRCh38/hg38 |
| NM_001286167.3 | chr16:g.89748763G>A | c.3244C>T | p.L1082F | RefSeq | GRCh38/hg38 |
| NM_000135 | chr16:g.89748763G>A | c.3244C>T | p.L1082F | RefSeq | GRCh38/hg38 |
| XM_005256294 | chr16:g.89748763G>A | c.3244C>T | p.L1082F | RefSeq | GRCh38/hg38 |
| NM_000135.3 | chr16:g.89748763G>A | c.3244C>T | p.L1082F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FANCA L1082F | unknown |