Varaico: Literature-Extracted Genetic Variants

Gene:RPN1
Variant:p.L11V

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
4 papers
NM_002950.4
p.L11V
c.31C>G
Surrounding Variants
1 paper
NM_002950.4
p.A5V
c.14C>T
1 paper
NM_002950.4
p.A5S
c.13G>T
1 paper
NM_002950.4
p.A5P
c.13G>C
1 paper
NM_002950.4
p.A18T
c.52G>A
1 paper
NM_002950.4
p.P4S
c.10C>T
1 paper
NM_002950.4
p.M1_E2insFs
c.3_4insA
1 paper
NM_002950.4
p.A20V
c.59C>T
1 paper
NM_002950.4
p.A20A
c.60G>A
1 paper
NM_002950.4
p.S23I
c.68G>T
1 paper
NM_002950.4
p.S26S
c.78C>T
1 paper
NM_002950.4
p.E27K
c.79G>A
1 paper
NM_002950.4
p.L31L
c.91C>T
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