Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.A149_I151delFs

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.A149_I151delFs
c.447_453del7
Surrounding Variants
24 papers
NM_000551.4
p.A149T
c.445G>A
10 papers
NM_000551.4
p.A149P
c.445G>C
11 papers
NM_000551.4
p.A149fs
c.445_446fs
2 papers
NM_000551.4
p.A149insFs
c.445_446insT
15 papers
NM_000551.4
p.A149S
c.445G>T
1 paper
NM_000551.4
p.A149delFs
c.447delC
5 papers
NM_000551.4
p.A149fs
c.445_446fs
1 paper
NM_000551.4
p.A149_N150delins
c.446_449delinsA
8 papers
NM_000551.4
p.A149D
c.446C>A
1 paper
NM_000551.4
p.A149insFs
c.446_447insA
1 paper
NM_000551.4
p.A149G
c.446C>G
1 paper
NM_000551.4
p.A149V
c.446C>T
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