Varaico: Literature-Extracted Genetic Variants

Gene:COG7
Variant:p.Y500C

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.Y500C
c.1499A>G
Surrounding Variants
1 paper
NM_153603.4
p.S502fs
c.1504_1505fs
1 paper
NM_153603.4
p.A525T
c.1573G>A
1 paper
NM_153603.4
p.A544V
c.1631C>T
1 paper
NM_153603.4
p.T552insFs
c.1656dupC
1 paper
NM_153603.4
p.Q466*
c.1396C>T
1 paper
NM_153603.4
p.T439I
c.1316C>T
1 paper
NM_153603.4
p.F436C
c.1307T>G
4 papers
NM_153603.4
p.T605M
c.1814C>T
1 paper
NM_153603.4
p.G609R
c.1825G>C
1 paper
NM_153603.4
p.G609R
c.1825G>A
1 paper
NM_153603.4
p.E615K
c.1843G>A
1 paper
NM_153603.4
p.A618S
c.1852G>T
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