Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.Q488R

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.Q488R
c.1463A>G
Surrounding Variants
2 papers
NM_018206.6
p.E487A
c.1460A>C
1 paper
NM_018206.6
p.R493H
c.1478G>A
1 paper
NM_018206.6
p.I495F
c.1483A>T
1 paper
NM_018206.6
p.P479T
c.1435C>A
1 paper
NM_018206.6
p.R499C
c.1495C>T
2 papers
NM_018206.6
p.R499H
c.1496G>A
1 paper
NM_018206.6
p.V476A
c.1427T>C
1 paper
NM_018206.6
p.Q471P
c.1412A>C
7 papers
NM_018206.6
p.Y507F
c.1520A>T
1 paper
NM_018206.6
p.Q469P
c.1406A>C
1 paper
NM_018206.6
p.L508F
c.1524G>T
1 paper
NM_018206.6
p.L508F
c.1524G>C
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