Varaico: Literature-Extracted Genetic Variants

Gene:CPNE4

CPNE4

35 papers

RefSeq Summary

This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alter...

Pfam Domains

C2aa 25–132UCSCC2 domain
C2aa 159–266UCSCC2 domain
Copineaa 326–543UCSCCopine

Gene Aliases

HGNC Name

copine 4

HGNC Alias Symbols

COPN4; CPN4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
1 paper
NM_130808.3
p.K3Q
c.7A>C
1 paper
NM_130808.3
p.K25N
c.75A>T
1 paper
NM_130808.3
p.K25N
c.75A>C
1 paper
NM_130808.3
p.A31V
c.92C>T
1 paper
NM_130808.3
p.R38T
c.113G>C
1 paper
NM_130808.3
p.K43N
c.129A>T
1 paper
NM_130808.3
p.K43N
c.129A>C
1 paper
NM_130808.3
p.H55P
c.164A>C
1 paper
NM_130808.3
p.W58*
c.173G>A
1 paper
NM_130808.3
p.W58*
c.174G>A
1 paper
NM_130808.3
p.E60Q
c.178G>C
1 paper
NM_130808.3
p.R92W
c.274C>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."