Varaico: Literature-Extracted Genetic Variants

Gene:RPN1
Variant:p.Y341H

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.Y341H
c.1021T>C
Surrounding Variants
1 paper
NM_002950.4
p.L336H
c.1007T>A
1 paper
NM_002950.4
p.N335Fs
c.1003delinsGAFs
1 paper
NM_002950.4
p.V332I
c.994G>A
1 paper
NM_002950.4
p.G325W
c.973G>T
1 paper
NM_002950.4
p.F320V
c.958T>G
1 paper
NM_002950.4
p.I316F
c.946A>T
1 paper
NM_002950.4
p.N299T
c.896A>C
1 paper
NM_002950.4
p.A287A
c.861T>A
1 paper
NM_002950.4
p.K258E
c.772A>G
1 paper
NM_002950.4
p.L257R
c.770T>G
1 paper
NM_002950.4
p.I242N
c.725T>A
5 papers
NM_002950.4
p.H238Y
c.712C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."