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.R83Q

c.248G>A

Surrounding Variants

1 paper

NM_015386.3

p.M84delFs

c.252delC

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

1 paper

NM_015386.3

p.L68delFs

c.202_203delAA

1 paper

NM_015386.3

p.L68fs

c.202_203fs

1 paper

NM_015386.3

p.L64delFs

c.190_191delAG

1 paper

NM_015386.3

p.L64fs

c.190_191fs

1 paper

NM_015386.3

p.E63delFs

c.189delC

1 paper

NM_015386.3

p.Q89delins

c.266_267delinsCT

1 paper

NM_015386.3

p.S114G

c.340A>G