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Gene | FANCL |
Variant | R68P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL R68P does not lie within any known functional domains of the Fancl protein (UniProt.org). R68P has been identified in sequencing studies (PMID: 28881617, PMID: 25550361, PMID: 32659497), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL R68P |
Transcript | NM_018062.4 |
gDNA | chr2:g.58229827C>G |
cDNA | c.203G>C |
Protein | p.R68P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005264395.5 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_017004415 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532940.3 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
NM_001410792.1 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532940.4 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532942.4 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532942.3 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532939.4 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532939.3 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532941 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532942 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_047444852.1 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_017004414.2 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532940 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_017004414 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
NM_001114636 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532939 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_011532941.2 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
XM_017004415.2 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
NM_001114636.1 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
NM_001114636.1 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
NM_001374615.1 | chr2:g.58229827C>G | c.203G>C | p.R68P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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