Varaico: Literature-Extracted Genetic Variants

RRBP1

102 papers

RefSeq Summary

This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differen...

Pfam Domains

Rib_recp_KP_regaa 33–170UCSCRibosome receptor lysine/proline rich region

Rib_recp_KP_regaa 1220–1360UCSCRibosome receptor lysine/proline rich region

Gene Aliases

HGNC Name

ribosome binding protein 1

HGNC Alias Symbols

ES/130; p180

Papers

RefSeq ID

Protein change

DNA change

1–12 of 100 variants

3 papers

NM_001365613.2

p.R1324L

c.3971G>T

2 papers

NM_001365613.2

p.K60E

c.178A>G

2 papers

NM_001365613.2

p.K73N

c.219G>T

2 papers

NM_001365613.2

p.A445T

c.1333G>A

2 papers

NM_001365613.2

p.G449D

c.1346G>A

2 papers

NM_001365613.2

p.L1043H

c.3128T>A

2 papers

NM_001365613.2

p.S1199L

c.3596C>T

1 paper

NM_001365613.2

p.I3N

c.8T>A

1 paper

NM_001365613.2

p.Q45Q

c.135G>A

1 paper

NM_001365613.2

p.E48V

c.143A>T

1 paper

NM_001365613.2

p.V57G

c.170T>G

1 paper

NM_001365613.2

p.E58K

c.172G>A