Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.A35V

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
2 papers
NM_000551.4
p.A35V
c.104C>T
Surrounding Variants
2 papers
NM_000551.4
p.A35D
c.104C>A
1 paper
NM_000551.4
p.A35G
c.104C>G
1 paper
NM_000551.4
p.A35P
c.103G>C
2 papers
NM_000551.4
p.A35S
c.103G>T
1 paper
NM_000551.4
p.G34G
c.102C>T
1 paper
NM_000551.4
p.A35_E46del12
c.103_137del36
7 papers
NM_000551.4
p.E36K
c.106G>A
3 papers
NM_000551.4
p.E36Q
c.106G>C
1 paper
NM_000551.4
p.E36_E37ins5
c.106_110ins15
2 papers
NM_000551.4
p.E36*
c.106G>T
1 paper
NM_000551.4
p.E36G
c.107A>G
1 paper
NM_000551.4
p.E36V
c.107A>T
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