Varaico: Literature-Extracted Genetic Variants

Gene:CPNE2
Variant:p.P260_L261Splc

CPNE2

34 papers

RefSeq Summary

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein...

Pfam Domains

C2aa 25–133UCSCC2 domain
C2aa 155–265UCSCC2 domain
Copineaa 326–543UCSCCopine

Gene Aliases

HGNC Name

copine 2

HGNC Previous Name

copine II

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152727.6
p.P260_L261Splc
c.780+1G>C
Surrounding Variants
1 paper
NM_152727.6
p.G237fs
c.709_710fs
1 paper
NM_152727.6
p.E264K
c.790G>A
1 paper
NM_152727.6
p.R286*
c.856C>T
1 paper
NM_152727.6
p.W190*
c.570G>A
1 paper
NM_152727.6
p.W190*
c.569G>A
1 paper
NM_152727.6
p.D170E
c.510C>A
1 paper
NM_152727.6
p.D170E
c.510C>G
1 paper
NM_152727.6
p.G302E
c.905G>A
1 paper
NM_152727.6
p.A162delFs
c.486delG
1 paper
NM_152727.6
p.A162fs
c.484_485fs
1 paper
NM_152727.6
p.G319R
c.955G>A
1 paper
NM_152727.6
p.G319R
c.955G>C
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