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.N165D

c.493A>G

Surrounding Variants

1 paper

NM_001144061.2

p.P171S

c.511C>T

1 paper

NM_001144061.2

p.F180L

c.540T>A

1 paper

NM_001144061.2

p.Y208F

c.623A>T

1 paper

NM_001144061.2

p.E229*

c.685G>T

1 paper

NM_001144061.2

p.L230L

c.690G>A

1 paper

NM_001144061.2

p.R147R

c.441A>G

1 paper

NM_001144061.2

p.R147*

c.439C>T

1 paper

NM_001144061.2

p.L132F

c.396G>T

1 paper

NM_001144061.2

p.L132F

c.396G>C

1 paper

NM_001144061.2

p.R117R

c.349C>A

1 paper

NM_001144061.2

p.D108V

c.323A>T

1 paper

NM_001144061.2

p.K107_D108Splc

c.321+1G>A