Gene Variant Detail

Contact

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@genomenon.com

Gene VHL
Variant F148Lfs*11
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL F148Lfs*11 indicates a shift in the reading frame starting at amino acid 148 and terminating 11 residues downstream causing a premature truncation of the 213 amino acid Vhl protein (UniProt.org). F148Lfs*11 has not been characterized, however, due to the effects of other truncation mutations downstream of F148 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL F148fs VHL F148Lfs*11

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.

Transcript NM_000551.4
gDNA chr3:g.10146617delT
cDNA c.444delT
Protein p.F148Lfs*11
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10146617delT c.444delT p.F148Lfs*11 RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146617delT c.444delT p.F148Lfs*11 RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10146617delT c.444delT p.F148Lfs*11 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
VHL F148Lfs*11 loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor