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VHL F148fs - Gene Variant Detail

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Gene VHL
Variant F148fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL F148fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 148 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). F148fs 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

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Transcript NM_000551.4
gDNA chr3:g.(10146614_10146615)
cDNA c.(442_441)
Protein p.F148fs
Source Database RefSeq
Genome Build GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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