Varaico: Literature-Extracted Genetic Variants

Gene:COPA

COPA

235 papers

RefSeq Summary

In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been...

Pfam Domains

WD40aa 1–37UCSCWD domain, G-beta repeat
WD40aa 41–79UCSCWD domain, G-beta repeat
WD40aa 83–121UCSCWD domain, G-beta repeat
WD40aa 125–163UCSCWD domain, G-beta repeat
WD40aa 195–233UCSCWD domain, G-beta repeat
WD40aa 240–277UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

coat protein complex I subunit alpha

HGNC Alias Symbols

HEP-COP; alpha-COP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 181 variants
37 papers
NM_004371.4
p.E241K
c.721G>A
25 papers
NM_004371.4
p.R233H
c.698G>A
22 papers
NM_004371.4
p.K230N
c.690G>T
22 papers
NM_004371.4
p.K230N
c.690G>C
20 papers
NM_004371.4
p.D243G
c.728A>G
19 papers
NM_004371.4
p.I164V
c.490A>G
11 papers
NM_004371.4
p.W240R
c.718T>C
11 papers
NM_004371.4
p.W240R
c.718T>A
10 papers
NM_004371.4
p.R281W
c.841C>T
8 papers
NM_004371.4
p.A239P
c.715G>C
8 papers
NM_004371.4
p.V242G
c.725T>G
8 papers
NM_004371.4
p.R281W
c.841C>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."