Varaico: Literature-Extracted Genetic Variants

Gene:CPNE1
Variant:p.L502P

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.L502P
c.1505T>C
Surrounding Variants
1 paper
NM_152925.3
p.A492V
c.1475C>T
1 paper
NM_152925.3
p.Q536fs
c.1606_1607fs
1 paper
NM_152925.3
p.R478fs
c.1432_1433fs
1 paper
NM_152925.3
p.T470A
c.1408A>G
1 paper
NM_152925.3
p.E456*
c.1366G>T
1 paper
NM_152925.3
p.N440S
c.1319A>G
1 paper
NM_152925.3
p.S439L
c.1316C>T
1 paper
NM_152925.3
p.L417L
c.1251G>A
1 paper
NM_152925.3
p.S412_Q413Splc
c.1237-2A>T
1 paper
NM_152925.3
p.S412_Q413Splc
c.1237-2A>G
1 paper
NM_152925.3
p.Q408*
c.1222C>T
1 paper
NM_152925.3
p.Q404E
c.1210C>G
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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."