Varaico: Literature-Extracted Genetic Variants

Gene:RPN1
Variant:p.T144A

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
2 papers
NM_002950.4
p.T144A
c.430A>G
Surrounding Variants
1 paper
NM_002950.4
p.P141P
c.423G>A
1 paper
NM_002950.4
p.Y135F
c.404A>T
1 paper
NM_002950.4
p.V155M
c.463G>A
1 paper
NM_002950.4
p.E157D
c.471G>T
1 paper
NM_002950.4
p.E157D
c.471G>C
1 paper
NM_002950.4
p.Y161D
c.481T>G
1 paper
NM_002950.4
p.Y161C
c.482A>G
1 paper
NM_002950.4
p.Y161S
c.482A>C
1 paper
NM_002950.4
p.P123S
c.367C>T
1 paper
NM_002950.4
p.A120T
c.358G>A
1 paper
NM_002950.4
p.L117F
c.349C>T
1 paper
NM_002950.4
p.G110W
c.328G>T
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