Varaico: Literature-Extracted Genetic Variants

Gene:VPS26C
Variant:p.N234K

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.N234K
c.702C>G
Surrounding Variants
1 paper
NM_006052.2
p.Q233H
c.699G>T
1 paper
NM_006052.2
p.Q233H
c.699G>C
1 paper
NM_006052.2
p.A229T
c.685G>A
1 paper
NM_006052.2
p.G224D
c.671G>A
3 papers
NM_006052.2
p.I250T
c.749T>C
1 paper
NM_006052.2
p.F258V
c.772T>G
3 papers
NM_006052.2
p.E271K
c.811G>A
1 paper
NM_006052.2
p.E271Splc
c.811+1G>A
1 paper
NM_006052.2
p.S202L
c.605C>T
3 papers
NM_006052.2
p.H181P
c.542A>C
3 papers
NM_006052.2
p.H181N
c.541C>A
1 paper
NM_006052.2
p.G180*
c.538G>T
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