Varaico: Literature-Extracted Genetic Variants

Gene:CPNE6
Variant:p.F504L

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.F504L
c.1510T>C
Surrounding Variants
1 paper
NM_006032.4
p.F504L
c.1512C>A
1 paper
NM_006032.4
p.F504L
c.1512C>G
1 paper
NM_006032.4
p.P506R
c.1517C>G
1 paper
NM_006032.4
p.R493Q
c.1478G>A
1 paper
NM_006032.4
p.R490H
c.1469G>A
1 paper
NM_006032.4
p.S477C
c.1430C>G
2 papers
NM_006032.4
p.S436*
c.1307C>A
1 paper
NM_006032.4
p.A535T
c.1603G>A
1 paper
NM_006032.4
p.Q537P
c.1610A>C
1 paper
NM_006032.4
p.P546L
c.1637C>T
1 paper
NM_006032.4
p.P422P
c.1266G>A
1 paper
NM_006032.4
p.P422L
c.1265C>T
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