Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.S183L

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
24 papers
NM_000551.4
p.S183L
c.548C>T
Surrounding Variants
26 papers
NM_000551.4
p.S183*
c.548C>A
5 papers
NM_000551.4
p.S183W
c.548C>G
1 paper
NM_000551.4
p.S183S
c.549G>T
1 paper
NM_000551.4
p.L184delFs
c.550delC
1 paper
NM_000551.4
p.L184_Y185delFs
c.552_553delCT
1 paper
NM_000551.4
p.L184_D187del4
c.550_560del12
2 papers
NM_000551.4
p.S183T
c.547T>A
6 papers
NM_000551.4
p.S183P
c.547T>C
2 papers
NM_000551.4
p.S183A
c.547T>G
2 papers
NM_000551.4
p.S183fs
c.547_548fs
1 paper
NM_000551.4
p.S183_L184delFs
c.549_550delGC
1 paper
NM_000551.4
p.L184I
c.550C>A
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