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

Selected Variant

1 paper

NM_001365613.2

p.A262P

c.784G>C

Surrounding Variants

1 paper

NM_001365613.2

p.G264A

c.791G>C

1 paper

NM_001365613.2

p.G239R

c.715G>A

1 paper

NM_001365613.2

p.P286R

c.857C>G

1 paper

NM_001365613.2

p.P286Q

c.857C>A

1 paper

NM_001365613.2

p.E233V

c.698A>T

1 paper

NM_001365613.2

p.E233K

c.697G>A

1 paper

NM_001365613.2

p.Q298H

c.894G>T

1 paper

NM_001365613.2

p.A299G

c.896C>G

1 paper

NM_001365613.2

p.K300R

c.899A>G

1 paper

NM_001365613.2

p.R220K

c.659G>A

1 paper

NM_001365613.2

p.K310E

c.928A>G

1 paper

NM_001365613.2

p.K311E

c.931A>G