Varaico: Literature-Extracted Genetic Variants

Gene:CPNE1
Variant:p.K157R

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
Selected Variant
1 paper
NM_152925.3
p.K157R
c.470A>G
Surrounding Variants
1 paper
NM_152925.3
p.P160delFs
c.478delG
1 paper
NM_152925.3
p.F161V
c.481T>G
1 paper
NM_152925.3
p.F165S
c.494T>C
1 paper
NM_152925.3
p.G170E
c.509G>A
1 paper
NM_003915.6
p.S183T
c.547T>A
1 paper
NM_152925.3
p.D150Y
c.448G>T
1 paper
NM_152925.3
p.V194I
c.580G>A
1 paper
NM_152925.3
p.G201S
c.601G>A
1 paper
NM_152925.3
p.T128M
c.383C>T
1 paper
NM_152925.3
p.S205C
c.613A>T
1 paper
NM_152925.3
p.G123W
c.367G>T
1 paper
NM_152925.3
p.V109fs
c.325_326fs
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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."