Varaico: Literature-Extracted Genetic Variants

Gene:VBP1
Variant:p.Y112H

VBP1

26 papers

RefSeq Summary

The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. The encoded protein functions as a chaperone protein, and may play a role in the transpo...

Pfam Domains

Prefoldinaa 60–182UCSCPrefoldin subunit

Gene Aliases

HGNC Name

VHL binding protein 1

HGNC Alias Symbols

PFD3; PFDN3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003372.7
p.Y112H
c.334T>C
Surrounding Variants
1 paper
NM_003372.7
p.L111M
c.331C>A
1 paper
NM_003372.7
p.S116T
c.346T>A
1 paper
NM_003372.7
p.D121G
c.362A>G
1 paper
NM_003372.7
p.K95_E96Splc
c.285+1G>A
1 paper
NM_003372.7
p.D136insFs
c.406_407insT
1 paper
NM_003372.7
p.D136D
c.408T>C
1 paper
NM_003372.7
p.N147insFs
c.440_441insT
1 paper
NM_003372.7
p.S157T
c.469T>A
1 paper
NM_003372.7
p.L158V
c.472C>G
1 paper
NM_003372.7
p.A68D
c.203C>A
1 paper
NM_003372.7
p.V31_E32Splc
c.94-43C>T
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