Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.Y67Splc

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.Y67Splc
c.199+9T>G
Surrounding Variants
1 paper
NM_018206.6
p.Y67Splc
c.199+1G>A
1 paper
NM_018206.6
p.L66H
c.197T>A
1 paper
NM_018206.6
p.E65K
c.193G>A
1 paper
NM_018206.6
p.Y64N
c.190T>A
1 paper
NM_018206.6
p.P60L
c.179C>T
1 paper
NM_018206.6
p.P60insFs
c.179_180insGT
1 paper
NM_018206.6
p.S59L
c.176C>T
12 papers
NM_018206.6
p.M57I
c.171G>T
13 papers
NM_018206.6
p.M57I
c.171G>C
14 papers
NM_018206.6
p.M57I
c.171G>A
1 paper
NM_018206.6
p.M57L
c.169A>T
1 paper
NM_018206.6
p.M57L
c.169A>C
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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."