Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P71delFs

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
10 papers
NM_000551.4
p.P71delFs
c.213delC
Surrounding Variants
1 paper
NM_000551.4
p.E70E
c.210G>A
3 papers
NM_000551.4
p.E70D
c.210G>C
4 papers
NM_000551.4
p.E70D
c.210G>T
1 paper
NM_000551.4
p.P71_I75delFs
c.211_223del13
1 paper
NM_000551.4
p.P71_I75delFs
c.212_225del14
2 papers
NM_000551.4
p.P71_R79insFs
c.212_237dup26
2 papers
NM_000551.4
p.E70A
c.209A>C
4 papers
NM_000551.4
p.E70G
c.209A>G
3 papers
NM_000551.4
p.E70V
c.209A>T
2 papers
NM_000551.4
p.P71_C77delFs
c.212_231del20
3 papers
NM_000551.4
p.P71T
c.211C>A
1 paper
NM_000551.4
p.P71insFs
c.211_212insA
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