Varaico: Literature-Extracted Genetic Variants

COPB1

70 papers

RefSeq Summary

This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is ...

Pfam Domains

Adaptin_Naa 18–543UCSCAdaptin N terminal region

Coatamer_beta_Caa 667–807UCSCCoatomer beta C-terminal region

Coatomer_b_Cplaaa 813–944UCSCCoatomer beta subunit appendage platform

Gene Aliases

HGNC Name

coat protein complex I subunit beta 1

HGNC Previous Names

COPI coat complex subunit beta 1; coatomer protein complex, subunit beta; coatomer protein complex, subunit beta 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001144061.2

p.S793*

c.2378C>A

Surrounding Variants

1 paper

NM_001144061.2

p.S793*

c.2378C>G

1 paper

NM_001144061.2

p.V789I

c.2365G>A

1 paper

NM_001144061.2

p.N784I

c.2351A>T

1 paper

NM_001144061.2

p.D751N

c.2251G>A

1 paper

NM_001144061.2

p.I822V

c.2464A>G

1 paper

NM_001144061.2

p.I824I

c.2472C>T

2 papers

NM_001144061.2

p.R841C

c.2521C>T

1 paper

NM_001144061.2

p.E681K

c.2041G>A

1 paper

NM_001144061.2

p.Q675E

c.2023C>G

1 paper

NM_001144061.2

p.Q637Q

c.1911G>A

1 paper

NM_001144061.2

p.N874_M875insA

c.2620_2624ins3

1 paper

NM_001144061.2

p.Y887insFs

c.2660_2661insC