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Gene | FANCA |
Variant | S1416L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA S1416L does not lie within any known functional domains of the Fanca protein (UniProt.org). S1416L has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA S1416L |
Transcript | NM_000135.4 |
gDNA | chr16:g.89738895G>A |
cDNA | c.4247C>T |
Protein | p.S1416L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135 | chr16:g.89738895G>A | c.4247C>T | p.S1416L | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89738895G>A | c.4247C>T | p.S1416L | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89738895G>A | c.4247C>T | p.S1416L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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