Varaico: Literature-Extracted Genetic Variants

Gene:CABP2
Variant:p.R155W

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.R155W
c.463C>T
Surrounding Variants
4 papers
NM_016366.3
p.E156*
c.466G>T
1 paper
NM_016366.3
p.E156K
c.466G>A
1 paper
NM_016366.3
p.M151T
c.452T>C
1 paper
NM_016366.3
p.F161I
c.481T>A
1 paper
NM_016366.3
p.R162W
c.484C>T
3 papers
NM_016366.3
p.E163fs
c.487_488fs
4 papers
NM_016366.3
p.E163delFs
c.487delC
1 paper
NM_016366.3
p.E163_F164Splc
c.489+5G>A
1 paper
NM_016366.3
p.M140R
c.419T>G
3 papers
NM_016366.3
p.E163_F164Splc
c.490-1G>T
3 papers
NM_016366.3
p.F164fs
c.490_491fs
1 paper
NM_016366.3
p.D169_G170insCC
c.505_509ins6
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