Varaico: Literature-Extracted Genetic Variants

Gene:COG7
Variant:p.H228P

COG7

98 papers

RefSeq Summary

The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localiza...

Pfam Domains

COG7aa 2–767UCSCGolgi complex component 7 (COG7)

Gene Aliases

HGNC Name

component of oligomeric golgi complex 7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153603.4
p.H228P
c.683A>C
Surrounding Variants
2 papers
NM_153603.4
p.K229M
c.686A>T
1 paper
NM_153603.4
p.Y223F
c.668A>T
1 paper
NM_153603.4
p.R216Q
c.647G>A
1 paper
NM_153603.4
p.A234insFs
c.701dupC
1 paper
NM_153603.4
p.Y254H
c.760T>C
1 paper
NM_153603.4
p.H262R
c.785A>G
1 paper
NM_153603.4
p.T263A
c.787A>G
1 paper
NM_153603.4
p.Q266R
c.797A>G
1 paper
NM_153603.4
p.A194V
c.581C>T
1 paper
NM_153603.4
p.A186S
c.556G>T
1 paper
NM_153603.4
p.Q145_D146Splc
c.436-9C>A
1 paper
NM_153603.4
p.E277K
c.829G>A
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