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Gene | FANCA |
Variant | R1425C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA R1425C does not lie within any known functional domains of the Fanca protein (UniProt.org). R1425C has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA R1425C |
Transcript | NM_000135.4 |
gDNA | chr16:g.89738696G>A |
cDNA | c.4273C>T |
Protein | p.R1425C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.3 | chr16:g.89738696G>A | c.4273C>T | p.R1425C | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89738696G>A | c.4273C>T | p.R1425C | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89738696G>A | c.4273C>T | p.R1425C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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