Varaico: Literature-Extracted Genetic Variants

RPN2

50 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_IIaa 29–263UCSCRibophorin II N-terminal domain

Ribophorin_II_2ndaa 271–369UCSCRibophorin II second domain

Ribophorin_II_3rdaa 376–503UCSCRibophorin II third domain

Ribophorin_II_Caa 530–628UCSCRibophorin_II, C-terminal domain

Gene Aliases

HGNC Name

ribophorin II

HGNC Alias Symbols

SWP1; RPNII; RIBIIR; RPN-II

Papers

RefSeq ID

Protein change

DNA change

1–12 of 72 variants

4 papers

NM_002951.5

p.G374D

c.1121G>A

2 papers

NM_002951.5

p.Y89H

c.265T>C

2 papers

NM_002951.5

p.D281N

c.841G>A

2 papers

NM_002951.5

p.R562Q

c.1685G>A

1 paper

NM_002951.5

p.G5Splc

c.13+2342G>A

1 paper

NM_002951.5

p.T8insFs

c.22_23ins29

1 paper

NM_002951.5

p.T8insFs

c.22_23ins29

1 paper

NM_002951.5

p.T8S

c.22A>T

1 paper

NM_002951.5

p.A18T

c.52G>A

1 paper

NM_002951.5

p.A22T

c.64G>A

1 paper

NM_002951.5

p.S40L

c.119C>T

1 paper

NM_002951.5

p.F52S

c.155T>C