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.Q456P

c.1367A>C

Surrounding Variants

1 paper

NM_001365613.2

p.A455T

c.1363G>A

1 paper

NM_001365613.2

p.K450R

c.1349A>G

2 papers

NM_001365613.2

p.G449D

c.1346G>A

2 papers

NM_001365613.2

p.A445T

c.1333G>A

1 paper

NM_001365613.2

p.K440R

c.1319A>G

1 paper

NM_001365613.2

p.G439D

c.1316G>A

1 paper

NM_001365613.2

p.E433A

c.1298A>C

1 paper

NM_001365613.2

p.A482P

c.1444G>C

1 paper

NM_001365613.2

p.K430R

c.1289A>G

1 paper

NM_001365613.2

p.A425T

c.1273G>A

1 paper

NM_001365613.2

p.E383K

c.1147G>A

1 paper

NM_001365613.2

p.A382V

c.1145C>T