Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.R32*

VPS35

675 papers

RefSeq Summary

This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of...

Pfam Domains

Vps35aa 15–753UCSCVacuolar protein sorting-associated protein 35

Gene Aliases

HGNC Name

VPS35 retromer complex component

HGNC Alias Symbols

FLJ10752; MEM3; PARK17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018206.6
p.R32*
c.94A>T
Surrounding Variants
3 papers
NM_018206.6
p.K31K
c.93G>A
10 papers
NM_018206.6
p.R32S
c.96A>T
10 papers
NM_018206.6
p.R32S
c.96A>C
1 paper
NM_018206.6
p.M30insFs
c.89_90ins8
2 papers
NM_018206.6
p.M30K
c.89T>A
1 paper
NM_018206.6
p.M30V
c.88A>G
1 paper
NM_018206.6
p.L34R
c.101T>G
4 papers
NM_018206.6
p.L34_D35Splc
c.102+1G>A
1 paper
NM_018206.6
p.F28_Q29insFs
c.84_85insGC
1 paper
NM_018206.6
p.S27L
c.80C>T
1 paper
NM_018206.6
p.K24delFs
c.70delT
1 paper
NM_018206.6
p.Q21L
c.62A>T
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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."