Varaico: Literature-Extracted Genetic Variants

Gene:CPNE6

CPNE6

47 papers

RefSeq Summary

This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through the...

Pfam Domains

C2aa 21–129UCSCC2 domain
C2aa 21–129UCSCC2 domain
C2aa 155–265UCSCC2 domain
C2aa 155–265UCSCC2 domain
Copineaa 325–542UCSCCopine

Gene Aliases

HGNC Name

copine 6

HGNC Alias Symbols

N-copine; copine-6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
2 papers
NM_006032.4
p.T38S
c.112A>T
2 papers
NM_006032.4
p.T38S
c.113C>G
2 papers
NM_006032.4
p.R398H
c.1193G>A
2 papers
NM_006032.4
p.S436*
c.1307C>A
1 paper
NM_006032.4
p.D3D
c.9C>T
1 paper
NM_006032.4
p.T16M
c.47C>T
1 paper
NM_006032.4
p.L24M
c.70C>A
1 paper
NM_006032.4
p.H29Y
c.85C>T
1 paper
NM_006032.4
p.D33N
c.97G>A
1 paper
NM_006032.4
p.D35N
c.103G>A
1 paper
NM_006032.4
p.A76A
c.228C>T
1 paper
NM_006032.4
p.L77F
c.229C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."