Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.E199delFs

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
1 paper
NM_000551.4
p.E199delFs
c.595delG
Surrounding Variants
11 papers
NM_000551.4
p.L198Q
c.593T>A
16 papers
NM_000551.4
p.L198P
c.593T>C
9 papers
NM_000551.4
p.L198R
c.593T>G
1 paper
NM_000551.4
p.E199insFs
c.595_596insG
1 paper
NM_000551.4
p.L198M
c.592C>A
1 paper
NM_000551.4
p.L198insFs
c.592_593insG
4 papers
NM_000551.4
p.L198fs
c.592_593fs
1 paper
NM_000551.4
p.L198_E199insAA
c.592_596ins6
1 paper
NM_000551.4
p.L198insFs
c.592_593insT
5 papers
NM_000551.4
p.L198V
c.592C>G
1 paper
NM_000551.4
p.L198delFs
c.593delT
3 papers
NM_000551.4
p.L198fs
c.592_593fs
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