Varaico: Literature-Extracted Genetic Variants

Gene:VPS26A

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
1–12 of 70 variants
8 papers
NM_004896.5
p.K93E
c.277A>G
6 papers
NM_004896.5
p.K297*
c.889A>T
5 papers
NM_004896.5
p.M112V
c.334A>G
4 papers
NM_004896.5
p.P316S
c.946C>T
2 papers
NM_004896.5
p.M112I
c.336G>A
2 papers
NM_004896.5
p.M112I
c.336G>C
2 papers
NM_004896.5
p.M112I
c.336G>T
2 papers
NM_004896.5
p.I176I
c.528A>T
2 papers
NM_004896.5
p.A253V
c.758C>T
1 paper
NM_004896.5
p.M1T
c.2T>C
1 paper
NM_004896.5
p.F8delFs
c.24delT
1 paper
NM_004896.5
p.F8fs
c.22_23fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."