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

1–12 of 73 variants

3 papers

NM_001144061.2

p.F551V

c.1651T>G

2 papers

NM_001144061.2

p.Q319_D320Splc

c.957+1G>T

2 papers

NM_001144061.2

p.R531T

c.1592G>C

2 papers

NM_001144061.2

p.N579D

c.1735A>G

2 papers

NM_001144061.2

p.R841C

c.2521C>T

1 paper

NM_001144061.2

p.M1I

c.3G>A

1 paper

NM_001144061.2

p.A3insFs

c.7_8insT

1 paper

NM_001144061.2

p.D17insFs

c.50dupA

1 paper

NM_001144061.2

p.L42L

c.124T>C

1 paper

NM_001144061.2

p.K43R

c.128A>G

1 paper

NM_001144061.2

p.L58fs

c.172_173fs

1 paper

NM_001144061.2

p.F65L

c.193T>C