Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P192delFs

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
4 papers
NM_000551.4
p.P192delFs
c.575delC
Surrounding Variants
3 papers
NM_000551.4
p.H191P
c.572A>C
3 papers
NM_198156.3
p.H150R
c.449A>G
NM_000551.4
p.H191R
c.572A>G
3 papers
NM_000551.4
p.H191L
c.572A>T
1 paper
NM_000551.4
p.H191_P192delFs
c.573_574delCC
2 papers
NM_000551.4
p.H191Q
c.573C>A
1 paper
NM_000551.4
p.H191N
c.571C>A
2 papers
NM_000551.4
p.H191fs
c.571_572fs
46 papers
NM_000551.4
p.H191D
c.571C>G
1 paper
NM_000551.4
p.H191Q
c.573C>G
2 papers
NM_000551.4
p.H191Y
c.571C>T
2 papers
NM_000551.4
p.H191delFs
c.572delA
2 papers
NM_000551.4
p.P192_L198del7
c.574_593del21
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