Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.K159fs

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.K159fs
c.475_476fs
Surrounding Variants
5 papers
NM_000551.4
p.K159fs
c.475_476fs
1 paper
NM_000551.4
p.K159ins1
c.475_476insTTT
1 paper
NM_000551.4
p.K159Q
c.475A>C
18 papers
NM_000551.4
p.K159E
c.475A>G
3 papers
NM_000551.4
p.K159*
c.475A>T
1 paper
NM_000551.4
p.K159_E160insFs
c.477_478insCA
1 paper
NM_000551.4
p.K159ins1
c.476_477insTTT
8 papers
NM_000551.4
p.K159R
c.476A>G
3 papers
NM_000551.4
p.E160delFs
c.479_480delAG
3 papers
NM_000551.4
p.K159insFs
c.475dupA
6 papers
NM_000551.4
p.K159delFs
c.477delA
1 paper
NM_000551.4
p.L158_K159Fs
c.474_476delinsCFs
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