Varaico: Literature-Extracted Genetic Variants

COG4

98 papers

RefSeq Summary

The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disord...

Pfam Domains

COG4_Naa 74–176UCSCConserved oligomeric Golgi complex subunit 4, N-terminal

COG4_maa 217–497UCSCCOG4 transport protein, middle alpha-helical bundle

COG4_Caa 531–746UCSCConserved oligomeric Golgi complex subunit 4, C-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 4

HGNC Alias Symbols

COD1; DKFZP586E1519

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015386.3

p.E57insFs

c.171dupG

Surrounding Variants

1 paper

NM_015386.3

p.L40L

c.118C>T

1 paper

NM_015386.3

p.I32S

c.95T>G

1 paper

NM_015386.3

p.V24V

c.72G>C

1 paper

NM_015386.3

p.Q19_P20insFs

c.57_58insAT

1 paper

NM_015386.3

p.G16A

c.47G>C

1 paper

NM_015386.3

p.P12S

c.34C>T

1 paper

NM_015386.3

p.L8F

c.22C>T

1 paper

NM_015386.3

p.L8V

c.22C>G

2 papers

NM_015386.3

p.M5I

c.15G>T

2 papers

NM_015386.3

p.M5I

c.15G>C

2 papers

NM_015386.3

p.M5I

c.15G>A

1 paper

NM_015386.3

p.M5T

c.14T>C