Varaico: Literature-Extracted Genetic Variants

Gene:VPS26A
Variant:p.M112I

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
2 papers
NM_004896.5
p.M112I
c.336G>C
Surrounding Variants
2 papers
NM_004896.5
p.M112I
c.336G>A
2 papers
NM_004896.5
p.M112I
c.336G>T
5 papers
NM_004896.5
p.M112V
c.334A>G
1 paper
NM_004896.5
p.V114A
c.341T>C
1 paper
NM_004896.5
p.E110Q
c.328G>C
1 paper
NM_004896.5
p.E110*
c.328G>T
1 paper
NM_004896.5
p.K116M
c.347A>T
1 paper
NM_004896.5
p.F109I
c.325T>A
1 paper
NM_004896.5
p.P117S
c.349C>T
1 paper
NM_004896.5
p.P98R
c.293C>G
1 paper
NM_004896.5
p.R127C
c.379C>T
1 paper
NM_004896.5
p.R127H
c.380G>A
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