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.P99S

c.295C>T

Surrounding Variants

1 paper

NM_001365613.2

p.L96P

c.287T>C

1 paper

NM_001365613.2

p.P114L

c.341C>T

1 paper

NM_001365613.2

p.I117S

c.350T>G

1 paper

NM_001365613.2

p.V121L

c.361G>C

2 papers

NM_001365613.2

p.K73N

c.219G>T

1 paper

NM_001365613.2

p.K73N

c.219G>C

1 paper

NM_001365613.2

p.A126V

c.377C>T

1 paper

NM_001365613.2

p.Q129K

c.385C>A

1 paper

NM_001365613.2

p.K68N

c.204G>T

1 paper

NM_001365613.2

p.K68N

c.204G>C

1 paper

NM_001365613.2

p.K68*

c.202A>T

1 paper

NM_001365613.2

p.K131E

c.391A>G