Varaico: Literature-Extracted Genetic Variants

Gene:VPS26A
Variant:p.L250P

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.L250P
c.749T>C
Surrounding Variants
1 paper
NM_004896.5
p.R249S
c.747G>C
1 paper
NM_004896.5
p.R249S
c.747G>T
2 papers
NM_004896.5
p.A253V
c.758C>T
1 paper
NM_004896.5
p.P247S
c.739C>T
1 paper
NM_004896.5
p.T258A
c.772A>G
1 paper
NM_004896.5
p.R284W
c.850C>T
1 paper
NM_004896.5
p.G243A
c.728G>C
1 paper
NM_004896.5
p.P221L
c.662C>T
6 papers
NM_004896.5
p.K297*
c.889A>T
1 paper
NM_004896.5
p.Q305R
c.914A>G
4 papers
NM_004896.5
p.P316S
c.946C>T
1 paper
NM_004896.5
p.M327I
c.981G>A
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