Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | FANCL |
Variant | D306* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCL D306* results in a premature truncation of the Fancl protein at aa 306 of 375 (UniProt.org). D306* is predicted to lead to a loss of Fancl protein function as indicated by a loss of binding to Ube2w in a yeast two-hybrid assay (PMID: 21229326). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL inact mut FANCL D306* |
Transcript | NM_018062.4 |
gDNA | chr2:g.58161624_58161626delGATinsTAA |
cDNA | c.916_918delGATinsTAA |
Protein | p.D306* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532940.4 | chr2:g.58162896_58162898delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_017004414.2 | chr2:g.58162896_58162898delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58161624_58161626delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_011532940.3 | chr2:g.58162896_58162898delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_011532939.4 | chr2:g.58162911_58162913delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_011532940 | chr2:g.58162896_58162898delATCinsTTA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_011532939 | chr2:g.58162911_58162913delATCinsTTA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_017004414 | chr2:g.58162896_58162898delATCinsTTA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58161624_58161626delATCinsTTA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
NM_001410792.1 | chr2:g.58162911_58162913delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58161624_58161626delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58161624_58161626delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58161624_58161626delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
NM_001374615.1 | chr2:g.58162896_58162898delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58161624_58161626delATCinsTTA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_011532941.2 | chr2:g.58162911_58162913delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_011532939.3 | chr2:g.58162911_58162913delGATinsTAA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
XM_011532941 | chr2:g.58162911_58162913delATCinsTTA | c.916_918delGATinsTAA | p.D306* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|