Varaico: Literature-Extracted Genetic Variants

Gene:CPNE6
Variant:p.S170I

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.S170I
c.509G>T
Surrounding Variants
1 paper
NM_006032.4
p.D173A
c.518A>C
1 paper
NM_006032.4
p.D167N
c.499G>A
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.N182K
c.546C>A
1 paper
NM_006032.4
p.N182K
c.546C>G
1 paper
NM_006032.4
p.T121P
c.361A>C
1 paper
NM_006032.4
p.Y228S
c.683A>C
1 paper
NM_006032.4
p.D229N
c.685G>A
1 paper
NM_006032.4
p.D231N
c.691G>A
1 paper
NM_006032.4
p.D237N
c.709G>A
1 paper
NM_006032.4
p.I239I
c.717C>T
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