Varaico: Literature-Extracted Genetic Variants

Gene:CPNE7
Variant:p.H97Q

CPNE7

46 papers

RefSeq Summary

This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A d...

Pfam Domains

C2aa 24–129UCSCC2 domain
C2aa 24–129UCSCC2 domain
C2aa 233–341UCSCC2 domain
C2aa 233–341UCSCC2 domain
Copineaa 401–618UCSCCopine

Gene Aliases

HGNC Name

copine 7

HGNC Previous Name

copine VII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153636.3
p.H97Q
c.291T>G
Surrounding Variants
1 paper
NM_153636.3
p.H97Q
c.291T>A
1 paper
NM_153636.3
p.F91I
c.271T>A
1 paper
NM_153636.3
p.C104*
c.312T>A
1 paper
NM_153636.3
p.R90C
c.268C>T
1 paper
NM_153636.3
p.F77L
c.231C>A
1 paper
NM_153636.3
p.F77L
c.231C>G
1 paper
NM_153636.3
p.F77L
c.229T>C
1 paper
NM_153636.3
p.M1K
c.2T>A
1 paper
NM_153636.3
p.L130R
c.389T>G
1 paper
NM_153636.3
p.I143I
c.429C>T
1 paper
NM_153636.3
p.A147T
c.439G>A
1 paper
NM_153636.3
p.S151L
c.452C>T
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