Varaico: Literature-Extracted Genetic Variants

Gene:CPNE3
Variant:p.L386R

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
Selected Variant
1 paper
NM_003909.5
p.L386R
c.1157T>G
Surrounding Variants
3 papers
NM_003909.5
p.T412M
c.1235C>T
1 paper
NM_003909.5
p.Q414*
c.1240C>T
1 paper
NM_003909.5
p.Q415K
c.1243C>A
1 paper
NM_003909.5
p.R446M
c.1337G>T
1 paper
NM_003909.5
p.P448L
c.1343C>T
1 paper
NM_003909.5
p.R475C
c.1423C>T
1 paper
NM_003909.5
p.F495L
c.1483T>C
1 paper
NM_003909.5
p.F495L
c.1485C>A
1 paper
NM_003909.5
p.F495L
c.1485C>G
1 paper
NM_003909.5
p.K528N
c.1584G>C
1 paper
NM_003909.5
p.K528N
c.1584G>T
1 paper
NM_003909.5
p.V357G
c.1070T>G
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