Varaico: Literature-Extracted Genetic Variants

Gene:VPS26C
Variant:p.R121C

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.R121C
c.361C>T
Surrounding Variants
3 papers
NM_006052.2
p.R121H
c.362G>A
1 paper
NM_006052.2
p.M124T
c.371T>C
1 paper
NM_006052.2
p.D132Y
c.394G>T
3 papers
NM_006052.2
p.D132N
c.394G>A
2 papers
NM_006052.2
p.V155M
c.463G>A
1 paper
NM_006052.2
p.T158M
c.473C>T
1 paper
NM_006052.2
p.Q165E
c.493C>G
3 papers
NM_006052.2
p.V167V
c.501C>A
3 papers
NM_006052.2
p.Q117H
c.351G>T
3 papers
NM_006052.2
p.T108M
c.323C>T
3 papers
NM_006052.2
p.A171S
c.511G>T
3 papers
NM_006052.2
p.L177F
c.529C>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."