Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.Q12K

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.Q12K
c.34C>A
Surrounding Variants
1 paper
NM_018206.6
p.E11V
c.32A>T
2 papers
NM_018206.6
p.D10A
c.29A>C
1 paper
NM_018206.6
p.P8P
c.24T>C
1 paper
NM_018206.6
p.Q6R
c.17A>G
36 papers
NM_018206.6
p.E18V
c.53A>T
2 papers
NM_018206.6
p.A19V
c.56C>T
1 paper
NM_018206.6
p.I20V
c.58A>G
2 papers
NM_018206.6
p.T3A
c.7A>G
1 paper
NM_018206.6
p.Q21L
c.62A>T
3 papers
NM_018206.6
p.P2L
c.5C>T
1 paper
NM_018206.6
p.P2S
c.4C>T
1 paper
NM_018206.6
p.K24delFs
c.70delT
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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."