Varaico: Literature-Extracted Genetic Variants

Gene:COG2
Variant:p.A339T

COG2

114 papers

RefSeq Summary

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts wi...

Pfam Domains

COG2_Naa 15–89UCSCCOG2 N-terminal
COG2_Caa 378–699UCSCCOG complex component, COG2, C-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 2

HGNC Previous Symbol

LDLC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007357.3
p.A339T
c.1015G>A
Surrounding Variants
1 paper
NM_007357.3
p.P334L
c.1001C>T
1 paper
NM_007357.3
p.E342_K343Splc
c.1026+10C>T
1 paper
NM_007357.3
p.Y309C
c.926A>G
1 paper
NM_007357.3
p.N304K
c.912T>A
1 paper
NM_007357.3
p.N304K
c.912T>G
1 paper
NM_007357.3
p.E342_K343Splc
c.1026+377A>G
1 paper
NM_007357.3
p.S299S
c.897C>A
2 papers
NM_007357.3
p.C287R
c.859T>C
1 paper
NM_007357.3
p.M275V
c.823A>G
1 paper
NM_007357.3
p.E262G
c.785A>G
1 paper
NM_007357.3
p.T345_I346delFs
c.1034_1038del5
1 paper
NM_007357.3
p.T345fs
c.1033_1034fs
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