Varaico: Literature-Extracted Genetic Variants

Gene:CABP2
Variant:p.G12delFs

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
2 papers
NM_016366.3
p.G12delFs
c.35delC
Surrounding Variants
1 paper
NM_016366.3
p.G12fs
c.34_35fs
1 paper
NM_016366.3
p.R11Q
c.32G>A
1 paper
NM_016366.3
p.K14_D15Splc
c.42+1G>A
1 paper
NM_016366.3
p.A5A
c.15C>T
1 paper
NM_016366.3
p.A5T
c.13G>A
1 paper
NM_016366.3
p.G2E
c.5G>A
1 paper
NM_016366.3
p.G21R
c.61G>C
1 paper
NM_016366.3
p.G26C
c.76G>T
1 paper
NM_016366.3
p.G26G
c.78C>A
1 paper
NM_016366.3
p.E37K
c.109G>A
4 papers
NM_016366.3
p.A42T
c.124G>A
1 paper
NM_016366.3
p.G44C
c.130G>T
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