Varaico: Literature-Extracted Genetic Variants

Gene:CPNE6
Variant:p.T281A

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.T281A
c.841A>G
Surrounding Variants
1 paper
NM_006032.4
p.V282G
c.845T>G
1 paper
NM_006032.4
p.V283G
c.848T>G
1 paper
NM_006032.4
p.T288A
c.862A>G
1 paper
NM_006032.4
p.C264Y
c.791G>A
1 paper
NM_006032.4
p.T294T
c.882C>T
1 paper
NM_006032.4
p.I239I
c.717C>T
1 paper
NM_006032.4
p.D237N
c.709G>A
1 paper
NM_006032.4
p.D231N
c.691G>A
1 paper
NM_006032.4
p.D229N
c.685G>A
1 paper
NM_006032.4
p.Y228S
c.683A>C
1 paper
NM_006032.4
p.R332Q
c.995G>A
1 paper
NM_006032.4
p.R342H
c.1025G>A
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