Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.H115Q

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
42 papers
NM_000551.4
p.H115Q
c.345C>A
Surrounding Variants
41 papers
NM_000551.4
p.H115Q
c.345C>G
2 papers
NM_000551.4
p.L116delFs
c.346_347delCT
1 paper
NM_000551.4
p.L116del1
c.346_347delCTT
4 papers
NM_000551.4
p.H115_L116insFs
c.345_346insC
8 papers
NM_000551.4
p.H115P
c.344A>C
23 papers
NM_000551.4
p.H115R
c.344A>G
8 papers
NM_000551.4
p.H115L
c.344A>T
4 papers
NM_000551.4
p.L116delFs
c.346delC
1 paper
NM_000551.4
p.H115_W117delFs
c.345_349del5
1 paper
NM_000551.4
p.H115_F119delFs
c.345_355del11
2 papers
NM_000551.4
p.H115_A122delFs
c.345_364del20
2 papers
NM_000551.4
p.L116I
c.346C>A
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