Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.R167P

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
11 papers
NM_000551.4
p.R167P
c.500G>C
Surrounding Variants
231 papers
NM_000551.4
p.R167Q
c.500G>A
12 papers
NM_000551.4
p.R167L
c.500G>T
1 paper
NM_000551.4
p.R167_S168delFs
c.501_504del4
1 paper
NM_000551.4
p.S168_L178del11
c.502_533del33
1 paper
NM_000551.4
p.R167R
c.499C>A
1 paper
NM_000551.4
p.R167_S168ins0
c.500_502dupGGA
8 papers
NM_000551.4
p.R167fs
c.499_500fs
28 papers
NM_000551.4
p.R167G
c.499C>G
240 papers
NM_000551.4
p.R167W
c.499C>T
6 papers
NM_000551.4
p.R167delFs
c.501delG
1 paper
NM_000551.4
p.R167delFs
c.500_501delGG
2 papers
NM_000551.4
p.R167fs
c.499_500fs
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