Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.W387delFs

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.W387delFs
c.1160delG
Surrounding Variants
1 paper
NM_018714.3
p.A385T
c.1153G>A
4 papers
NM_018714.3
p.N392S
c.1175A>G
1 paper
NM_018714.3
p.K409E
c.1225A>G
1 paper
NM_018714.3
p.P410L
c.1229C>T
1 paper
NM_018714.3
p.P410P
c.1230G>A
1 paper
NM_018714.3
p.F413insFs
c.1238_1239insA
1 paper
NM_018714.3
p.E415G
c.1244A>G
1 paper
NM_018714.3
p.R425Q
c.1274G>A
1 paper
NM_018714.3
p.Q427_T428Splc
c.1282-4T>G
1 paper
NM_018714.3
p.E453Q
c.1357G>C
1 paper
NM_018714.3
p.N470D
c.1408A>G
2 papers
NM_018714.3
p.D482G
c.1445A>G
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