Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.I75fs

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
3 papers
NM_000551.4
p.I75fs
c.223_224fs
Surrounding Variants
5 papers
NM_000551.4
p.I75insFs
c.223_224insT
1 paper
NM_000551.4
p.F76_C77ins0
c.227_229dupTCT
1 paper
NM_000551.4
p.I75_C77insFs
c.224_231dup8
3 papers
NM_000551.4
p.I75L
c.223A>C
6 papers
NM_000551.4
p.I75V
c.223A>G
3 papers
NM_000551.4
p.I75F
c.223A>T
4 papers
NM_000551.4
p.I75delFs
c.224delT
2 papers
NM_000551.4
p.I75delFs
c.224_225delTC
2 papers
NM_000551.4
p.I75fs
c.223_224fs
67 papers
NM_000551.4
p.F76_C77del1
c.227_229delTCT
4 papers
NM_000551.4
p.I75_V84del0
c.225_251del27
4 papers
NM_000551.4
p.V74V
c.222C>A
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