Varaico: Literature-Extracted Genetic Variants

Gene:RPN1
Variant:p.T67I

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.T67I
c.200C>T
Surrounding Variants
1 paper
NM_002950.4
p.S68insFs
c.202_203ins8
1 paper
NM_002950.4
p.A66T
c.196G>A
1 paper
NM_002950.4
p.G60S
c.178G>A
1 paper
NM_002950.4
p.A56T
c.166G>A
1 paper
NM_002950.4
p.G85D
c.254G>A
1 paper
NM_002950.4
p.K48R
c.143A>G
1 paper
NM_002950.4
p.L31L
c.91C>T
1 paper
NM_002950.4
p.E27K
c.79G>A
1 paper
NM_002950.4
p.S26S
c.78C>T
1 paper
NM_002950.4
p.S23I
c.68G>T
1 paper
NM_002950.4
p.A20A
c.60G>A
1 paper
NM_002950.4
p.A20V
c.59C>T
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