Varaico: Literature-Extracted Genetic Variants

Gene:COG7
Variant:p.Q145_D146Splc

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
2 papers
NM_153603.4
p.Q145_D146Splc
c.435+1G>A
Surrounding Variants
1 paper
NM_153603.4
p.Q145_D146Splc
c.435+2T>C
1 paper
NM_153603.4
p.E140K
c.418G>A
1 paper
NM_153603.4
p.E139K
c.415G>A
1 paper
NM_153603.4
p.A136T
c.406G>A
1 paper
NM_153603.4
p.D112E
c.336C>G
1 paper
NM_153603.4
p.D112E
c.336C>A
1 paper
NM_153603.4
p.L108insFs
c.323_324insT
1 paper
NM_153603.4
p.Q106_V107Splc
c.319-1G>A
1 paper
NM_153603.4
p.Q103K
c.307C>A
1 paper
NM_153603.4
p.D100Y
c.298G>T
1 paper
NM_153603.4
p.Q99H
c.297G>T
1 paper
NM_153603.4
p.Q99H
c.297G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."