Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.C162W

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
55 papers
NM_000551.4
p.C162W
c.486C>G
Surrounding Variants
11 papers
NM_000551.4
p.C162*
c.486C>A
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.L163delFs
c.488delT
1 paper
NM_000551.4
p.L163fs
c.487_488fs
44 papers
NM_000551.4
p.C162Y
c.485G>A
4 papers
NM_000551.4
p.C162S
c.485G>C
80 papers
NM_000551.4
p.C162F
c.485G>T
3 papers
NM_000551.4
p.C162delFs
c.486delC
1 paper
NM_000551.4
p.C162_V165del0
c.486_494del9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."