Varaico: Literature-Extracted Genetic Variants

Gene:CPNE7
Variant:p.A147T

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.A147T
c.439G>A
Surrounding Variants
1 paper
NM_153636.3
p.S151L
c.452C>T
1 paper
NM_153636.3
p.G155S
c.463G>A
1 paper
NM_153636.3
p.I143I
c.429C>T
1 paper
NM_153636.3
p.L130R
c.389T>G
1 paper
NM_153636.3
p.S213Y
c.638C>A
1 paper
NM_153636.3
p.V230I
c.688G>A
1 paper
NM_153636.3
p.S235C
c.704C>G
1 paper
NM_153636.3
p.E250Q
c.748G>C
1 paper
NM_153636.3
p.K254fs
c.760_761fs
1 paper
NM_153636.3
p.K254_Q260delFs
c.762_780del19
1 paper
NM_153636.3
p.W263L
c.788G>T
1 paper
NM_153636.3
p.R275H
c.824G>A
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."