Varaico: Literature-Extracted Genetic Variants

Gene:RPN1
Variant:p.H397Y

RPN1

103 papers

RefSeq Summary

This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligo...

Pfam Domains

Ribophorin_Iaa 31–457UCSCRibophorin I

Gene Aliases

HGNC Name

ribophorin I

HGNC Alias Symbol

OST1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002950.4
p.H397Y
c.1189C>T
Surrounding Variants
3 papers
NM_002950.4
p.R391H
c.1172G>A
3 papers
NM_002950.4
p.D402D
c.1206C>T
1 paper
NM_002950.4
p.R406H
c.1217G>A
2 papers
NM_002950.4
p.I381insFs
c.1142dupT
1 paper
NM_002950.4
p.L416L
c.1246C>T
1 paper
NM_002950.4
p.V426I
c.1276G>A
1 paper
NM_002950.4
p.H427Q
c.1281C>G
1 paper
NM_002950.4
p.H427Q
c.1281C>A
1 paper
NM_002950.4
p.M435K
c.1304T>A
1 paper
NM_002950.4
p.V443L
c.1327G>T
1 paper
NM_002950.4
p.V453I
c.1357G>A
1 paper
NM_002950.4
p.V453A
c.1358T>C
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