Varaico: Literature-Extracted Genetic Variants

Gene:CABP2
Variant:p.E116K

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
1 paper
NM_016366.3
p.E116K
c.346G>A
Surrounding Variants
1 paper
NM_016366.3
p.E116_E118del0
c.346_354del9
1 paper
NM_016366.3
p.E121D
c.363G>T
1 paper
NM_016366.3
p.E121D
c.363G>C
2 papers
NM_016366.3
p.T109S
c.326C>G
2 papers
NM_016366.3
p.T109S
c.325A>T
1 paper
NM_016366.3
p.G104V
c.311G>T
4 papers
NM_016366.3
p.G104D
c.311G>A
1 paper
NM_016366.3
p.R101Q
c.302G>A
5 papers
NM_016366.3
p.R94Q
c.281G>A
1 paper
NM_016366.3
p.R92Q
c.275G>A
2 papers
NM_001318496.2
p.R98*
c.292C>T
NM_016366.3
p.R92*
c.274C>T
2 papers
NM_016366.3
p.A86G
c.257C>G
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