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.Q319_D320Splc

c.957+1G>T

Surrounding Variants

1 paper

NM_001144061.2

p.E307*

c.919G>T

1 paper

NM_001144061.2

p.K298R

c.893A>G

1 paper

NM_001144061.2

p.E292insFs

c.874_875insA

1 paper

NM_001144061.2

p.Q319_D320Splc

c.958-4T>G

1 paper

NM_001144061.2

p.L347F

c.1039C>T

1 paper

NM_001144061.2

p.N413insFs

c.1238_1239insA

1 paper

NM_001144061.2

p.R425C

c.1273C>T

1 paper

NM_001144061.2

p.Y262C

c.785A>G

1 paper

NM_001144061.2

p.R430R

c.1290C>A

1 paper

NM_001144061.2

p.A259A

c.777T>G

1 paper

NM_001144061.2

p.M436I

c.1308G>T

1 paper

NM_001144061.2

p.M436I

c.1308G>C