Varaico: Literature-Extracted Genetic Variants

Gene:COG2
Variant:p.K127fs

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.K127fs
c.379_380fs
Surrounding Variants
1 paper
NM_007357.3
p.K126E
c.376A>G
1 paper
NM_007357.3
p.K127delFs
c.380delA
1 paper
NM_007357.3
p.V113insFs
c.338_339insG
1 paper
NM_007357.3
p.R111W
c.331C>T
1 paper
NM_007357.3
p.I110delFs
c.330delT
1 paper
NM_007357.3
p.V106L
c.316G>C
1 paper
NM_007357.3
p.S104S
c.312G>A
1 paper
NM_007357.3
p.L100_S101Splc
c.301-9C>T
1 paper
NM_007357.3
p.V130E
c.389T>A
1 paper
NM_007357.3
p.I134M
c.402A>G
1 paper
NM_007357.3
p.R138Q
c.413G>A
1 paper
NM_007357.3
p.E144*
c.430G>T
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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."