Gene Detail

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Gene Symbol VHL
Synonyms HRCA1 | pVHL | RCA1 | VHL1
Gene Description VHL, von Hippel-Lindau tumor suppressor, is part of an E3 ubiquitin protein ligase complex, which promotes degradation of HIF-alpha and other protein targets required for cellular growth and angiogenesis (PMID: 24583008, PMID: 30194449), and plays a role in genomic stability (PMID: 31747945). VHL contributes to von Hippel-Lindau disease (PMID: 30194449, PMID: 30006056) and sporadic tumors, including clear cell renal carcinoma (PMID: 24583008, PMID: 30149673).
ACMG Incidental List v3.0:
Yes, Von Hippel-Lindau syndrome (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
7428 3 3p25.3 NM_000551 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
E52fs frameshift loss of function - predicted VHL E52fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 52 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). E52fs has not been characterized, however, due to the effects of other truncation mutations downstream of E52 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
F148fs frameshift loss of function - predicted 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.
G144fs frameshift loss of function - predicted VHL G144fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 144 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). G144fs has not been characterized, however, due to the effects of other truncation mutations downstream of G144 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
inact mut unknown loss of function VHL inact mut indicates that this variant results in a loss of function of the Vhl protein. However, the specific amino acid change has not been identified.
L116fs frameshift loss of function - predicted VHL L116fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 116 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). L116fs has not been characterized, however, due to the effects of other truncation mutations downstream of L116 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
L158fs frameshift loss of function - predicted VHL L158fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 158 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). L158fs has not been characterized, however, due to the effects of other truncation mutations downstream of L158 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
L184fs frameshift loss of function - predicted VHL L184fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 184 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). L184fs has not been characterized, however, due to the effects of other truncation mutations downstream of L184 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
mutant unknown unknown VHL mutant indicates an unspecified mutation in the VHL gene.
N131fs frameshift loss of function - predicted VHL N131fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 131 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). N131fs has not been characterized, however, due to the effects of other truncation mutations downstream of N131 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
Q132fs frameshift loss of function - predicted VHL Q132fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 132 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). Q132fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q132 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
R161fs frameshift loss of function - predicted VHL R161fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 161 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). R161fs has not been characterized, however, due to the effects of other truncation mutations downstream of R161 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
R177fs frameshift loss of function - predicted VHL R177fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 177 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). R177fs has not been characterized, however, due to the effects of other truncation mutations downstream of R177 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
S139fs frameshift loss of function - predicted VHL S139fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 139 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). S139fs has not been characterized, however, due to the effects of other truncation mutations downstream of S139 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
S68fs frameshift loss of function - predicted VHL S68fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 68 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). S68fs has not been characterized, however, due to the effects of other truncation mutations downstream of S68 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
V155fs frameshift loss of function - predicted VHL V155fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 155 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). V155fs has not been characterized, however, due to the effects of other truncation mutations downstream of V155 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
V62fs frameshift loss of function - predicted VHL V62fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 62 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). V62fs has not been characterized, however, due to the effects of other truncation mutations downstream of V62 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.