FANCL M247V
Gene Variant Detail

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Gene FANCL
Variant M247V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCL M247V lies within the UBC-RWD region of the Fancl protein (UniProt.org). M247V results in decreased Fancd2 binding and ubiquitination in in vitro assays, and decreased ability to rescue G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600).
Associated Drug Resistance
Category Variants Paths

FANCL mutant FANCL inact mut FANCL M247V

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Transcript NM_018062.4
gDNA chr2:g.58163470T>C
cDNA c.739A>G
Protein p.M247V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_018062.4 chr2:g.58163470T>C c.739A>G p.M247V RefSeq GRCh38/hg38
NM_018062.3 chr2:g.58163470T>C c.739A>G p.M247V RefSeq GRCh38/hg38
XM_005264395.5 chr2:g.58163470T>C c.739A>G p.M247V RefSeq GRCh38/hg38
NM_018062 chr2:g.58163470T>C c.739A>G p.M247V RefSeq GRCh38/hg38
XM_005264395 chr2:g.58163470T>C c.739A>G p.M247V RefSeq GRCh38/hg38
XM_005264395.4 chr2:g.58163470T>C c.739A>G p.M247V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 Protein Effect Treatment Approaches
FANCL M247V loss of function Olaparib