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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 |
Transcript | NM_000551.4 |
gDNA | chr3:g.(10146614_10146615) |
cDNA | c.(442_441) |
Protein | p.F148fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000551 | chr3:g.(10146614_10146615) | c.(442_441) | p.F148fs | RefSeq | GRCh38/hg38 |
NM_000551.3 | chr3:g.(10146614_10146615) | c.(442_441) | p.F148fs | RefSeq | GRCh38/hg38 |
NM_000551.4 | chr3:g.(10146614_10146615) | c.(442_441) | p.F148fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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