Varaico: Literature-Extracted Genetic Variants

Gene:CPNE7
Variant:p.S354Splc

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.S354Splc
c.1061+5G>A
Surrounding Variants
1 paper
NM_153636.3
p.Q350*
c.1048C>T
1 paper
NM_153636.3
p.C349F
c.1046G>T
1 paper
NM_153636.3
p.Y329_P335delFs
c.987_1005del19
1 paper
NM_153636.3
p.R322R
c.964C>A
1 paper
NM_153636.3
p.P321P
c.963G>A
2 papers
NM_153636.3
p.S295F
c.884C>T
1 paper
NM_153636.3
p.R275H
c.824G>A
1 paper
NM_153636.3
p.W263L
c.788G>T
1 paper
NM_153636.3
p.R404K
c.1211G>A
1 paper
NM_153636.3
p.Y408Y
c.1224C>T
1 paper
NM_153636.3
p.A424V
c.1271C>T
1 paper
NM_153636.3
p.A425V
c.1274C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."