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.K371N

c.1113G>C

Surrounding Variants

1 paper

NM_001365613.2

p.K371N

c.1113G>T

1 paper

NM_001365613.2

p.A372D

c.1115C>A

1 paper

NM_001365613.2

p.G369V

c.1106G>T

1 paper

NM_001365613.2

p.A382V

c.1145C>T

1 paper

NM_001365613.2

p.E383K

c.1147G>A

1 paper

NM_001365613.2

p.G354V

c.1061G>T

1 paper

NM_001365613.2

p.E333Q

c.997G>C

1 paper

NM_001365613.2

p.A425T

c.1273G>A

1 paper

NM_001365613.2

p.K430R

c.1289A>G

1 paper

NM_001365613.2

p.K311E

c.931A>G

1 paper

NM_001365613.2

p.K310E

c.928A>G

1 paper

NM_001365613.2

p.E433A

c.1298A>C