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.E1302D

c.3906G>C

Surrounding Variants

1 paper

NM_001365613.2

p.E1302D

c.3906G>T

1 paper

NM_001365613.2

p.T1297A

c.3889A>G

4 papers

NM_004587.3

p.R891L

c.2672G>T

NM_001365613.2

p.R1324L

c.3971G>T

1 paper

NM_001365613.2

p.E1284K

c.3850G>A

1 paper

NM_001365613.2

p.P1282fs

c.3844_3845fs

1 paper

NM_001365613.2

p.P1274L

c.3821C>T

1 paper

NM_001365613.2

p.D1269D

c.3807C>T

1 paper

NM_001365613.2

p.A1398_E1399Splc

c.4194+59G>T

1 paper

NM_001365613.2

p.D1249N

c.3745G>A

1 paper

NM_001365613.2

p.A1239T

c.3715G>A

1 paper

NM_001365613.2

p.S1233F

c.3698C>T

1 paper

NM_001365613.2

p.G1225_L1226Splc

c.3676-2A>G