Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.D205N

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
2 papers
NM_018714.3
p.D205N
c.613G>A
Surrounding Variants
1 paper
NM_018714.3
p.G202R
c.604G>C
1 paper
NM_018714.3
p.A209T
c.625G>A
1 paper
NM_018714.3
p.R234insFs
c.701dupG
1 paper
NM_018714.3
p.H247Y
c.739C>T
2 papers
NM_018714.3
p.G248Splc
c.742+1G>A
3 papers
NM_018714.3
p.A181A
c.543A>G
1 paper
NM_018714.3
p.R165*
c.493C>T
1 paper
NM_018714.3
p.Q254R
c.761A>G
1 paper
NM_018714.3
p.K267*
c.799A>T
1 paper
NM_018714.3
p.L276F
c.828G>C
1 paper
NM_018714.3
p.L276F
c.828G>T
1 paper
NM_018714.3
p.E278_G279del1
c.833_835delAAG
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