Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.N470D

COG1

110 papers

RefSeq Summary

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is requ...

Pfam Domains

VPS51_Exo84_Naa 12–93UCSCVps51/EXO84/COG1 N-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 1

HGNC Previous Symbol

LDLB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018714.3
p.N470D
c.1408A>G
Surrounding Variants
2 papers
NM_018714.3
p.D482G
c.1445A>G
1 paper
NM_018714.3
p.E453Q
c.1357G>C
1 paper
NM_018714.3
p.N494D
c.1480A>G
1 paper
NM_018714.3
p.L503insFs
c.1508dupT
1 paper
NM_018714.3
p.Q427_T428Splc
c.1282-4T>G
1 paper
NM_018714.3
p.K524E
c.1570A>G
1 paper
NM_018714.3
p.V527A
c.1580T>C
2 papers
NM_018714.3
p.P537P
c.1611C>G
1 paper
NM_018714.3
p.A552insFs
c.1656dupC
1 paper
NM_018714.3
p.A556T
c.1666G>A
1 paper
NM_018714.3
p.Y560*
c.1680C>A
1 paper
NM_018714.3
p.Y560*
c.1680C>G
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