FANCL D306*
Gene Variant Detail

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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*

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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 chr2:g.58162896_58162898delATCinsTTA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
NM_018062.4 chr2:g.58161624_58161626delGATinsTAA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
XM_011532941.2 chr2:g.58162911_58162913delGATinsTAA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
NM_001374615.1 chr2:g.58162896_58162898delGATinsTAA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
XM_011532940.3 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_011532939 chr2:g.58162911_58162913delATCinsTTA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
NM_018062 chr2:g.58161624_58161626delATCinsTTA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
XM_011532939.4 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
XM_005264395.4 chr2:g.58161624_58161626delGATinsTAA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
XM_017004414 chr2:g.58162896_58162898delATCinsTTA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
XM_011532939.3 chr2:g.58162911_58162913delGATinsTAA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
XM_005264395.5 chr2:g.58161624_58161626delGATinsTAA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
XM_011532940.4 chr2:g.58162896_58162898delGATinsTAA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
NM_001410792.1 chr2:g.58162911_58162913delGATinsTAA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
XM_005264395 chr2:g.58161624_58161626delATCinsTTA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38
XM_011532941 chr2:g.58162911_58162913delATCinsTTA c.916_918delGATinsTAA p.D306* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References