Varaico: Literature-Extracted Genetic Variants

Gene:CPNE7
Variant:p.V472M

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.V472M
c.1414G>A
Surrounding Variants
1 paper
NM_153636.3
p.V470M
c.1408G>A
1 paper
NM_153636.3
p.A475T
c.1423G>A
1 paper
NM_153636.3
p.R462H
c.1385G>A
1 paper
NM_153636.3
p.R462C
c.1384C>T
1 paper
NM_153636.3
p.D486D
c.1458C>T
1 paper
NM_153636.3
p.D487Y
c.1459G>T
1 paper
NM_153636.3
p.R491H
c.1472G>A
1 paper
NM_153636.3
p.R494W
c.1480C>T
1 paper
NM_153636.3
p.R500W
c.1498C>T
1 paper
NM_153636.3
p.A518A
c.1554G>A
1 paper
NM_153636.3
p.V527I
c.1579G>A
1 paper
NM_153636.3
p.V547I
c.1639G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."