Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.R89C

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.R89C
c.265C>T
Surrounding Variants
1 paper
NM_018714.3
p.R102Q
c.305G>A
1 paper
NM_018714.3
p.Q105_P106Splc
c.315+4A>C
1 paper
NM_018714.3
p.V37L
c.109G>C
1 paper
NM_018714.3
p.E34Q
c.100G>C
1 paper
NM_018714.3
p.A20P
c.58G>C
1 paper
NM_018714.3
p.A19E
c.56C>A
1 paper
NM_018714.3
p.D17G
c.50A>G
1 paper
NM_018714.3
p.R16P
c.47G>C
1 paper
NM_018714.3
p.R12W
c.34C>T
1 paper
NM_018714.3
p.Q108insFs
c.323_324insT
3 papers
NM_018714.3
p.Q111Q
c.333G>A
1 paper
NM_018714.3
p.A119A
c.357C>A
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