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.G740R

c.2218G>A

Surrounding Variants

1 paper

NM_001365613.2

p.G740R

c.2218G>C

1 paper

NM_001365613.2

p.E752K

c.2254G>A

1 paper

NM_001365613.2

p.S818N

c.2453G>A

1 paper

NM_001365613.2

p.R700H

c.2099G>A

1 paper

NM_001365613.2

p.S675F

c.2024C>T

1 paper

NM_001365613.2

p.S655F

c.1964C>T

1 paper

NM_001365613.2

p.G644S

c.1930G>A

1 paper

NM_001365613.2

p.S876C

c.2626A>T

1 paper

NM_001365613.2

p.S888G

c.2662A>G

1 paper

NM_001365613.2

p.E910K

c.2728G>A

1 paper

NM_004587.3

p.L506F

c.1516C>T

1 paper

NM_001365613.2

p.A982V

c.2945C>T