Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.W88*

VHL

2,228 papers

RefSeq Summary

This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that...

Pfam Domains

VHLaa 63–116UCSCVHL beta domain
VHLaa 63–144UCSCVHL beta domain
VHL_Caa 156–204UCSCVHL box domain

Gene Aliases

HGNC Name

von Hippel-Lindau tumor suppressor

HGNC Alias Symbol

VHL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
39 papers
NM_000551.4
p.W88*
c.263G>A
Surrounding Variants
30 papers
NM_000551.4
p.W88S
c.263G>C
17 papers
NM_000551.4
p.W88L
c.263G>T
1 paper
NM_000551.4
p.W88_L89Fs
c.263_265delinsTTFs
2 papers
NM_000551.4
p.W88_F91delFs
c.264_273del10
37 papers
NM_000551.4
p.W88*
c.264G>A
25 papers
NM_000551.4
p.W88C
c.264G>C
1 paper
NM_000551.4
p.W88_L89insFs
c.264_265insA
24 papers
NM_000551.4
p.W88C
c.264G>T
1 paper
NM_000551.4
p.L89delFs
c.265delC
3 papers
NM_000551.4
p.L89_F91delFs
c.267_271del5
1 paper
NM_000551.4
p.L89_Y98delFs
c.267_292del26
48 papers
NM_000551.4
p.W88R
c.262T>A
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