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

2 papers

NM_001144061.2

p.N579D

c.1735A>G

Surrounding Variants

1 paper

NM_001144061.2

p.R567C

c.1699C>T

3 papers

NM_001144061.2

p.F551V

c.1651T>G

1 paper

NM_001144061.2

p.G549V

c.1646G>T

1 paper

NM_001144061.2

p.F545L

c.1635C>G

1 paper

NM_001144061.2

p.F545L

c.1635C>A

1 paper

NM_001144061.2

p.F545L

c.1633T>C

1 paper

NM_001144061.2

p.R543I

c.1628G>T

1 paper

NM_001144061.2

p.D538E

c.1614C>G

1 paper

NM_001144061.2

p.D538E

c.1614C>A

2 papers

NM_001144061.2

p.R531T

c.1592G>C

1 paper

NM_001144061.2

p.A526V

c.1577C>T

1 paper

NM_001144061.2

p.L514V

c.1540T>G