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.Y430*

c.1290C>G

Surrounding Variants

1 paper

NM_015386.3

p.Y430*

c.1290C>A

1 paper

NM_015386.3

p.E429*

c.1285G>T

1 paper

NM_015386.3

p.E419*

c.1255G>T

1 paper

NM_015386.3

p.C415R

c.1243T>C

2 papers

NM_015386.3

p.L413insFs

c.1238_1239insA

1 paper

NM_015386.3

p.A439S

c.1315G>T

1 paper

NM_015386.3

p.K464N

c.1392G>T

1 paper

NM_015386.3

p.K464N

c.1392G>C

1 paper

NM_015386.3

p.R468Q

c.1403G>A

1 paper

NM_015386.3

p.R502W

c.1504C>T

1 paper

NM_015386.3

p.M503insFs

c.1508dupT

1 paper

NM_015386.3

p.K500_G504delFs

c.1499_1511del13