Varaico: Literature-Extracted Genetic Variants

Gene:CPNE8

CPNE8

39 papers

RefSeq Summary

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein...

Pfam Domains

C2aa 24–135UCSCC2 domain
C2aa 159–267UCSCC2 domain
Copineaa 328–547UCSCCopine

Gene Aliases

HGNC Name

copine 8

HGNC Previous Name

copine VIII

Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
2 papers
NM_153634.3
p.F174C
c.521T>G
2 papers
NM_153634.3
p.Y279*
c.837T>G
2 papers
NM_153634.3
p.Y279*
c.837T>A
1 paper
NM_153634.3
p.A9A
c.27G>A
1 paper
NM_153634.3
p.I11V
c.31A>G
1 paper
NM_153634.3
p.A20T
c.58G>A
1 paper
NM_153634.3
p.T24T
c.72G>C
1 paper
NM_153634.3
p.R25R
c.75G>A
1 paper
NM_153634.3
p.R94C
c.280C>T
1 paper
NM_153634.3
p.V100V
c.300T>A
1 paper
NM_153634.3
p.S126L
c.377C>T
1 paper
NM_153634.3
p.G144D
c.431G>A
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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."