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.F141I

c.421T>A

Surrounding Variants

1 paper

NM_015386.3

p.D134Y

c.400G>T

1 paper

NM_015386.3

p.A129D

c.386C>A

1 paper

NM_015386.3

p.K123_N124Splc

c.370-3C>T

2 papers

NM_015386.3

p.T162I

c.485C>T

1 paper

NM_015386.3

p.K190_L191del2

c.568_572del6

2 papers

NM_015386.3

p.R198C

c.592C>T

1 paper

NM_015386.3

p.I202V

c.604A>G

1 paper

NM_015386.3

p.V203E

c.608T>A

1 paper

NM_015386.3

p.I202_V203del2

c.604_608del6

1 paper

NM_015386.3

p.Q218R

c.653A>G

7 papers

NM_015386.3

p.E233*

c.697G>T

1 paper

NM_015386.3

p.E234insFs

c.701dupA