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

Selected Variant

1 paper

NM_002951.5

p.A96P

c.286G>C

Surrounding Variants

1 paper

NM_002951.5

p.Q92R

c.275A>G

1 paper

NM_002951.5

p.E101A

c.302A>C

1 paper

NM_002951.5

p.E101_I102Splc

c.303+2T>G

2 papers

NM_002951.5

p.Y89H

c.265T>C

1 paper

NM_002951.5

p.S82G

c.244A>G

1 paper

NM_002951.5

p.S105A

c.313T>G

1 paper

NM_002951.5

p.E118E

c.354G>A

1 paper

NM_002951.5

p.A128V

c.383C>T

1 paper

NM_002951.5

p.L132insFs

c.395dupT

1 paper

NM_002951.5

p.L132R

c.395T>G

1 paper

NM_002951.5

p.A160V

c.479C>T

1 paper

NM_002951.5

p.A160Splc

c.480-13C>G