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.T513P

c.1537A>C

Surrounding Variants

1 paper

NM_002951.5

p.V514I

c.1540G>A

1 paper

NM_002951.5

p.V501L

c.1501G>C

1 paper

NM_002951.5

p.V501L

c.1501G>T

1 paper

NM_002951.5

p.T465N

c.1394C>A

1 paper

NM_002951.5

p.V458M

c.1372G>A

1 paper

NM_002951.5

p.V458L

c.1372G>C

1 paper

NM_002951.5

p.V458L

c.1372G>T

1 paper

NM_002951.5

p.N455H

c.1363A>C

1 paper

NM_002951.5

p.Q441R

c.1322A>G

1 paper

NM_002951.5

p.H439R

c.1316A>G

1 paper

NM_001135771.3

p.L406F

c.1216C>T

1 paper

NM_002951.5

p.Q433_T434Splc

c.1300-8C>T