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.K1159N

c.3477G>C

Surrounding Variants

1 paper

NM_001365613.2

p.K1159N

c.3477G>T

1 paper

NM_001365613.2

p.D1144A

c.3431A>C

1 paper

NM_001365613.2

p.T1138_E1139Splc

c.3414+6C>G

3 papers

NM_004587.3

p.S766L

c.2297C>T

NM_001365613.2

p.S1199L

c.3596C>T

1 paper

NM_001365613.2

p.A1214V

c.3641C>T

1 paper

NM_001365613.2

p.E1222D

c.3666G>T

1 paper

NM_001365613.2

p.E1222D

c.3666G>C

1 paper

NM_001365613.2

p.G1225_L1226Splc

c.3676-2A>G

1 paper

NM_001365613.2

p.S1233F

c.3698C>T

1 paper

NM_001365613.2

p.A1239T

c.3715G>A

1 paper

NM_001365613.2

p.D1249N

c.3745G>A

3 papers

NM_004587.3

p.L610H

c.1829T>A

NM_001365613.2

p.L1043H

c.3128T>A