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.A565P

c.1693G>C

Surrounding Variants

2 papers

NM_002951.5

p.R562Q

c.1685G>A

1 paper

NM_002951.5

p.L553M

c.1657T>A

1 paper

NM_002951.5

p.P552_L553delins

c.1656_1657delinsCA

1 paper

NM_002951.5

p.V541A

c.1622T>C

1 paper

NM_002951.5

p.T539T

c.1617C>T

1 paper

NM_002951.5

p.E532K

c.1594G>A

1 paper

NM_002951.5

p.M590V

c.1768A>G

1 paper

NM_002951.5

p.L609L

c.1825C>T

1 paper

NM_002951.5

p.R619W

c.1855C>T

1 paper

NM_002951.5

p.V514I

c.1540G>A

1 paper

NM_002951.5

p.T513P

c.1537A>C

1 paper

NM_002951.5

p.V501L

c.1501G>C