Varaico: Literature-Extracted Genetic Variants

Gene:VPS26C

VPS26C

31 papers

RefSeq Summary

The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to...

Pfam Domains

Vps26aa 2–235UCSCVacuolar protein sorting-associated protein 26

Gene Aliases

HGNC Name

VPS26 endosomal protein sorting factor C

HGNC Previous Symbol

DSCR3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
4 papers
NM_006052.2
p.E60*
c.178G>T
3 papers
NM_006052.2
p.R11K
c.32G>A
3 papers
NM_006052.2
p.G38G
c.114A>G
3 papers
NM_006052.2
p.V66F
c.196G>T
3 papers
NM_006052.2
p.V66L
c.196G>C
3 papers
NM_006052.2
p.V66I
c.196G>A
3 papers
NM_006052.2
p.G87C
c.259G>T
3 papers
NM_006052.2
p.E94K
c.280G>A
3 papers
NM_006052.2
p.T108M
c.323C>T
3 papers
NM_006052.2
p.Q117H
c.351G>T
3 papers
NM_006052.2
p.R121C
c.361C>T
3 papers
NM_006052.2
p.R121H
c.362G>A
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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."