Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.A46P

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
3 papers
NM_018206.6
p.A46P
c.136G>C
Surrounding Variants
1 paper
NM_018206.6
p.A46T
c.136G>A
1 paper
NM_018206.6
p.K44delFs
c.132delT
1 paper
NM_018206.6
p.K44N
c.132A>T
1 paper
NM_018206.6
p.K44N
c.132A>C
1 paper
NM_018206.6
p.S47S
c.141T>A
18 papers
NM_018206.6
p.G51S
c.151G>A
15 papers
NM_018206.6
p.G51D
c.152G>A
1 paper
NM_018206.6
p.E52K
c.154G>A
2 papers
NM_018206.6
p.E52delFs
c.155delT
1 paper
NM_018206.6
p.N37S
c.110A>G
1 paper
NM_018206.6
p.N37fs
c.109_110fs
1 paper
NM_018206.6
p.T55I
c.164C>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."