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

2 papers

NM_015386.3

p.K123_N124Splc

c.369+1G>A

Surrounding Variants

1 paper

NM_015386.3

p.A122P

c.364G>C

1 paper

NM_015386.3

p.Q118_D120delFs

c.352_359del8

1 paper

NM_015386.3

p.L119V

c.355C>G

1 paper

NM_015386.3

p.R117H

c.350G>A

1 paper

NM_015386.3

p.S114G

c.340A>G

1 paper

NM_015386.3

p.Q89delins

c.266_267delinsCT

1 paper

NM_015386.3

p.M84delFs

c.252delC

1 paper

NM_015386.3

p.R83Q

c.248G>A

1 paper

NM_015386.3

p.M78I

c.234G>T

1 paper

NM_015386.3

p.M78I

c.234G>C

1 paper

NM_015386.3

p.M78I

c.234G>A

1 paper

NM_015386.3

p.M78T

c.233T>C