Varaico: Literature-Extracted Genetic Variants

Gene:CPNE6
Variant:p.T121P

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
Selected Variant
1 paper
NM_006032.4
p.T121P
c.361A>C
Surrounding Variants
1 paper
NM_006032.4
p.A98A
c.294C>A
1 paper
NM_006032.4
p.E95A
c.284A>C
1 paper
NM_006032.4
p.E95Q
c.283G>C
1 paper
NM_006032.4
p.D93N
c.277G>A
1 paper
NM_006032.4
p.D167N
c.499G>A
1 paper
NM_006032.4
p.S170I
c.509G>T
1 paper
NM_006032.4
p.D173A
c.518A>C
1 paper
NM_006032.4
p.M176L
c.526A>C
1 paper
NM_006032.4
p.E177A
c.530A>C
1 paper
NM_006032.4
p.L77F
c.229C>T
1 paper
NM_006032.4
p.A76A
c.228C>T
1 paper
NM_006032.4
p.N182K
c.546C>A
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