Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L85L

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.L85L
c.255G>T
Surrounding Variants
1 paper
NM_000551.4
p.L85L
c.255G>A
1 paper
NM_000551.4
p.L85L
c.255G>C
5 papers
NM_000551.4
p.P86insFs
c.258dupC
6 papers
NM_000551.4
p.P86delFs
c.258delC
1 paper
NM_000551.4
p.P86_L89delFs
c.257_267del11
1 paper
NM_000551.4
p.V87_P99delFs
c.259_296del38
17 papers
NM_000551.4
p.P86T
c.256C>A
2 papers
NM_000551.4
p.P86fs
c.256_257fs
28 papers
NM_000551.4
p.P86A
c.256C>G
59 papers
NM_000551.4
p.P86S
c.256C>T
2 papers
NM_000551.4
p.P86fs
c.256_257fs
1 paper
NM_000551.4
p.P86_G93del0
c.257_277del21
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