Varaico: Literature-Extracted Genetic Variants

Gene:CPNE3

CPNE3

40 papers

RefSeq Summary

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the ...

Pfam Domains

C2aa 8–116UCSCC2 domain
C2aa 138–259UCSCC2 domain
Copineaa 310–527UCSCCopine

Gene Aliases

HGNC Name

copine 3

HGNC Previous Name

copine III

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
3 papers
NM_003909.5
p.T412M
c.1235C>T
2 papers
NM_003909.5
p.T129M
c.386C>T
2 papers
NM_003909.5
p.E252D
c.756G>C
2 papers
NM_003909.5
p.E252D
c.756G>T
1 paper
NM_003909.5
p.L33L
c.99G>A
1 paper
NM_003909.5
p.G39D
c.116G>A
1 paper
NM_003909.5
p.R47H
c.140G>A
1 paper
NM_003909.5
p.L55S
c.164T>C
1 paper
NM_003909.5
p.Q58*
c.172C>T
1 paper
NM_003909.5
p.Y80*
c.240T>A
1 paper
NM_003909.5
p.Y80*
c.240T>G
1 paper
NM_003909.5
p.I105T
c.314T>C
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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."