Varaico: Literature-Extracted Genetic Variants

Gene:VPS26A
Variant:p.G193R

VPS26A

65 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

Vps26aa 8–283UCSCVacuolar protein sorting-associated protein 26

Gene Aliases

HGNC Name

VPS26 retromer complex component A

HGNC Previous Symbol

VPS26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004896.5
p.G193R
c.577G>A
Surrounding Variants
1 paper
NM_004896.5
p.L199S
c.596T>C
1 paper
NM_004896.5
p.K184Splc
c.552-3T>C
1 paper
NM_004896.5
p.Q205*
c.613C>T
1 paper
NM_004896.5
p.P221L
c.662C>T
1 paper
NM_004896.5
p.G243A
c.728G>C
2 papers
NM_004896.5
p.I176I
c.528A>T
1 paper
NM_004896.5
p.E171*
c.511G>T
1 paper
NM_004896.5
p.N161T
c.482A>C
1 paper
NM_004896.5
p.T135I
c.404C>T
1 paper
NM_004896.5
p.R127H
c.380G>A
1 paper
NM_004896.5
p.R127C
c.379C>T
1 paper
NM_004896.5
p.P117S
c.349C>T
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