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Gene | FANCA |
Variant | L1320del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA L1320del results in the deletion of an amino acid in the Fanca protein at amino acid 1320 (UniProt.org). L1320del has been identified in sequencing studies (PMID: 27748766, PMID: 26487540), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA L1320del |
Transcript | NM_000135.4 |
gDNA | chr16:g.89739534_89739536delGAG |
cDNA | c.3959_3961delTCC |
Protein | p.L1320delL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001286167.2 | chr16:g.89739534_89739536delGAG | c.3959_3961delTCC | p.L1320del | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89739534_89739536delGAG | c.3959_3961delTCC | p.L1320delL | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89739534_89739536delGAG | c.3959_3961delTCC | p.L1320del | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89739534_89739536delGAG | c.3959_3961delTCC | p.L1320delL | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89739534_89739536delGAG | c.3959_3961delTCC | p.L1320del | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89739534_89739536delGAG | c.3959_3961delTCC | p.L1320del | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89739534_89739536delGAG | c.3959_3961delTCC | p.L1320del | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89739534_89739536delGAG | c.3959_3961delTCC | p.L1320del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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