Varaico: Literature-Extracted Genetic Variants

Gene:CPNE3
Variant:p.E252D

CPNE3

40 papers

RefSeq Summary

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the ...

Pfam Domains

C2aa 8–116UCSCC2 domain
C2aa 138–259UCSCC2 domain
Copineaa 310–527UCSCCopine

Gene Aliases

HGNC Name

copine 3

HGNC Previous Name

copine III

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003909.5
p.E252D
c.756G>C
Surrounding Variants
2 papers
NM_003909.5
p.E252D
c.756G>T
1 paper
NM_003909.5
p.S264*
c.791C>A
1 paper
NM_003909.5
p.S264*
c.791C>G
1 paper
NM_003909.5
p.P244_V245Splc
c.733-12C>T
1 paper
NM_003909.5
p.V269M
c.805G>A
1 paper
NM_003909.5
p.T293_V294Splc
c.879+1G>A
1 paper
NM_003909.5
p.L326F
c.976C>T
1 paper
NM_003909.5
p.A338T
c.1012G>A
1 paper
NM_003909.5
p.A338Splc
c.1013+1G>A
1 paper
NM_003909.5
p.I226S
c.677T>G
1 paper
NM_003909.5
p.V357G
c.1070T>G
1 paper
NM_003909.5
p.M206I
c.618G>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."