Varaico: Literature-Extracted Genetic Variants

Gene:VPS26C
Variant:p.R11K

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.R11K
c.32G>A
Surrounding Variants
2 papers
NM_006052.2
p.K14E
c.40A>G
1 paper
NM_006052.2
p.L5V
c.13C>G
1 paper
NM_006052.2
p.M1I
c.3G>T
1 paper
NM_006052.2
p.M1I
c.3G>C
1 paper
NM_006052.2
p.M1I
c.3G>A
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