Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.L163delFs

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.L163delFs
c.488delT
Surrounding Variants
1 paper
NM_000551.4
p.L163I
c.487C>A
1 paper
NM_000551.4
p.L163fs
c.487_488fs
2 papers
NM_000551.4
p.L163_Q164insG
c.487_491ins3
10 papers
NM_000551.4
p.L163F
c.487C>T
1 paper
NM_000551.4
p.L163fs
c.487_488fs
11 papers
NM_000551.4
p.C162*
c.486C>A
55 papers
NM_000551.4
p.C162W
c.486C>G
11 papers
NM_000551.4
p.L163H
c.488T>A
17 papers
NM_000551.4
p.L163P
c.488T>C
7 papers
NM_000551.4
p.L163R
c.488T>G
1 paper
NM_000551.4
p.Q164insFs
c.490_491insC
1 paper
NM_000551.4
p.Q164delFs
c.490delC
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