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.Y718F

c.2153A>T

Surrounding Variants

1 paper

NM_015386.3

p.L719F

c.2155C>T

1 paper

NM_015386.3

p.R733W

c.2197C>T

1 paper

NM_015386.3

p.L734L

c.2202C>T

1 paper

NM_015386.3

p.K693Q

c.2077A>C

1 paper

NM_015386.3

p.R770R

c.2310C>G

6 papers

NM_015386.3

p.L773R

c.2318T>G

1 paper

NM_015386.3

p.L682P

c.2045T>C

1 paper

NM_015386.3

p.E782K

c.2344G>A

2 papers

NM_015386.3

p.F643L

c.1929C>G

2 papers

NM_015386.3

p.F643L

c.1929C>A

2 papers

NM_015386.3

p.F643L

c.1927T>C

1 paper

NM_015386.3

p.E642K

c.1924G>A