Varaico: Literature-Extracted Genetic Variants

Gene:CPNE1
Variant:p.Q211R

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
2 papers
NM_152925.3
p.Q211R
c.632A>G
Surrounding Variants
1 paper
NM_152925.3
p.I224L
c.670A>C
1 paper
NM_152925.3
p.F227C
c.680T>G
2 papers
NM_152925.3
p.T229P
c.685A>C
1 paper
NM_152925.3
p.S205C
c.613A>T
1 paper
NM_152925.3
p.G201S
c.601G>A
1 paper
NM_152925.3
p.V194I
c.580G>A
1 paper
NM_152925.3
p.R262C
c.784C>T
1 paper
NM_152925.3
p.K264N
c.792G>T
1 paper
NM_152925.3
p.K264N
c.792G>C
1 paper
NM_152925.3
p.I265S
c.794T>G
1 paper
NM_003915.6
p.S183T
c.547T>A
1 paper
NM_152925.3
p.G170E
c.509G>A
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