Varaico: Literature-Extracted Genetic Variants

Gene:CPNE1

CPNE1

45 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 calcium-dependent protein that also contains two N-te...

Pfam Domains

C2aa 6–116UCSCC2 domain
C2aa 137–254UCSCC2 domain
Copineaa 304–521UCSCCopine

Gene Aliases

HGNC Name

copine 1

HGNC Previous Name

copine I

Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
4 papers
NM_152925.3
p.F401insFs
c.1203dupT
2 papers
NM_152925.3
p.Q211R
c.632A>G
2 papers
NM_152925.3
p.T229P
c.685A>C
2 papers
NM_152925.3
p.A402fs
c.1204_1205fs
1 paper
NM_152925.3
p.S13F
c.38C>T
1 paper
NM_152925.3
p.D27N
c.79G>A
1 paper
NM_152925.3
p.V31I
c.91G>A
1 paper
NM_152925.3
p.V31insFs
c.92dupT
1 paper
NM_152925.3
p.V36M
c.106G>A
1 paper
NM_152925.3
p.L62R
c.185T>G
1 paper
NM_152925.3
p.L74L
c.220C>T
1 paper
NM_152925.3
p.R75H
c.224G>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."