Varaico: Literature-Extracted Genetic Variants

Gene:CABP2
Variant:p.E213Splc

CABP2

101 papers

RefSeq Summary

This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the prot...

Pfam Domains

EF-hand_7aa 69–141UCSCEF-hand domain pair
EF-hand_7aa 154–219UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calcium binding protein 2

HGNC Previous Symbol

DFNB93

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
24 papers
NM_016366.3
p.E213Splc
c.637+1G>T
Surrounding Variants
1 paper
NM_016366.3
p.E213Splc
c.637+1G>A
2 papers
NM_016366.3
p.E213Splc
c.637+7C>G
1 paper
NM_016366.3
p.D210N
c.628G>A
2 papers
NM_016366.3
p.L203P
c.608T>C
1 paper
NM_016366.3
p.L203F
c.607C>T
7 papers
NM_016366.3
p.I197T
c.590T>C
1 paper
NM_016366.3
p.E196K
c.586G>A
1 paper
NM_016366.3
p.R188H
c.563G>A
1 paper
NM_016366.3
p.V174M
c.520G>A
2 papers
NM_016366.3
p.D169delFs
c.505delC
1 paper
NM_016366.3
p.D169_G170insCC
c.505_509ins6
3 papers
NM_016366.3
p.F164fs
c.490_491fs
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."