Varaico: Literature-Extracted Genetic Variants

Gene:VPS26C
Variant:p.G38G

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
Selected Variant
3 papers
NM_006052.2
p.G38G
c.114A>G
Surrounding Variants
1 paper
NM_006052.2
p.L41M
c.121T>A
1 paper
NM_006052.2
p.S33S
c.99A>C
1 paper
NM_006052.2
p.D32E
c.96T>G
1 paper
NM_006052.2
p.D32E
c.96T>A
1 paper
NM_006052.2
p.S52R
c.154A>C
1 paper
NM_006052.2
p.V25M
c.73G>A
1 paper
NM_006052.2
p.S52R
c.156T>G
1 paper
NM_006052.2
p.S52R
c.156T>A
1 paper
NM_006052.2
p.L22P
c.65T>C
1 paper
NM_006052.2
p.V21L
c.61G>T
1 paper
NM_006052.2
p.V21L
c.61G>C
4 papers
NM_006052.2
p.E60*
c.178G>T
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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."