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.V273L

c.817G>C

Surrounding Variants

1 paper

NM_002951.5

p.V269M

c.805G>A

1 paper

NM_002951.5

p.S280C

c.839C>G

2 papers

NM_002951.5

p.D281N

c.841G>A

1 paper

NM_002951.5

p.E251K

c.751G>A

1 paper

NM_002951.5

p.L236V

c.706C>G

1 paper

NM_002951.5

p.A209V

c.626C>T

1 paper

NM_002951.5

p.T293insFs

c.877_878ins29

1 paper

NM_002951.5

p.V305L

c.913G>C

1 paper

NM_002951.5

p.S312C

c.935C>G

1 paper

NM_002951.5

p.I180T

c.539T>C

1 paper

NM_002951.5

p.V162I

c.484G>A

1 paper

NM_002951.5

p.A160Splc

c.480-13C>G