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.V383M

c.1147G>A

Surrounding Variants

1 paper

NM_002951.5

p.V383A

c.1148T>C

4 papers

NM_002951.5

p.G374D

c.1121G>A

1 paper

NM_002951.5

p.V367A

c.1100T>C

1 paper

NM_002951.5

p.I407I

c.1221C>T

1 paper

NM_002951.5

p.A408P

c.1222G>C

1 paper

NM_002951.5

p.D422_L429delFs

c.1265_1286del22

1 paper

NM_002951.5

p.Q433_T434Splc

c.1300-8C>T

1 paper

NM_001135771.3

p.L406F

c.1216C>T

1 paper

NM_002951.5

p.H439R

c.1316A>G

1 paper

NM_002951.5

p.Q441R

c.1322A>G

1 paper

NM_002951.5

p.N455H

c.1363A>C

1 paper

NM_002951.5

p.V458M

c.1372G>A