Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.R18H

CABP4

118 papers

RefSeq Summary

This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B....

Pfam Domains

EF-hand_1aa 133–161UCSCEF hand domain
EF-hand_7aa 208–273UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calcium binding protein 4

HGNC Alias Symbol

CSNB2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145200.5
p.R18H
c.53G>A
Surrounding Variants
3 papers
NM_145200.5
p.P22delFs
c.65delC
1 paper
NM_145200.5
p.P21fs
c.61_62fs
2 papers
NM_145200.5
p.P21Fs
c.61_62delinsAFs
1 paper
NM_145200.5
p.P21fs
c.61_62fs
2 papers
NM_145200.5
p.P22fs
c.64_65fs
1 paper
NM_145200.5
p.P22fs
c.64_65fs
1 paper
NM_145200.5
p.P22insFs
c.66dupT
1 paper
NM_145200.5
p.A23fs
c.67_68fs
1 paper
NM_145200.5
p.A23A
c.69G>A
1 paper
NM_145200.5
p.G24_V25delFs
c.71_74del4
1 paper
NM_145200.5
p.V25I
c.73G>A
1 paper
NM_145200.5
p.Q9Q
c.27G>A
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