Varaico: Literature-Extracted Genetic Variants

Gene:RPN1
Variant:p.F203L

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.F203L
c.609C>G
Surrounding Variants
1 paper
NM_002950.4
p.P202_F203ins8
c.604_608ins24
1 paper
NM_002950.4
p.V206G
c.617T>G
1 paper
NM_002950.4
p.G201R
c.601G>A
1 paper
NM_002950.4
p.T192T
c.576G>A
1 paper
NM_002950.4
p.P191L
c.572C>T
1 paper
NM_002950.4
p.K187*
c.559A>T
1 paper
NM_002950.4
p.V182M
c.544G>A
1 paper
NM_002950.4
p.R180Q
c.539G>A
1 paper
NM_002950.4
p.A178T
c.532G>A
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.Y161D
c.481T>G
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