Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.K515R

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.K515R
c.1544A>G
Surrounding Variants
1 paper
NM_018206.6
p.Q523insFs
c.1568_1569insAA
49 papers
NM_018206.6
p.R524W
c.1570C>T
2 papers
NM_018206.6
p.R526C
c.1576C>T
1 paper
NM_018206.6
p.Q538insFs
c.1613_1614insC
1 paper
NM_018206.6
p.R542L
c.1625G>T
1 paper
NM_018206.6
p.R542Q
c.1625G>A
1 paper
NM_018206.6
p.K544E
c.1630A>G
1 paper
NM_018206.6
p.V549_D550Splc
c.1647+14T>C
1 paper
NM_018206.6
p.L508_I509Splc
c.1524+115A>G
1 paper
NM_018206.6
p.L508F
c.1524G>T
1 paper
NM_018206.6
p.L508F
c.1524G>C
7 papers
NM_018206.6
p.Y507F
c.1520A>T
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