Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L198insFs

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.L198insFs
c.592_593insG
Surrounding Variants
1 paper
NM_000551.4
p.L198M
c.592C>A
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
1 paper
NM_000551.4
p.L198_E199delFs
c.593_596del4
1 paper
NM_000551.4
p.E199_M211del13
c.595_632del39
1 paper
NM_000551.4
p.D197E
c.591C>A
1 paper
NM_000551.4
p.D197E
c.591C>G
11 papers
NM_000551.4
p.L198Q
c.593T>A
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