Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.R124fs

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.R124fs
c.370_371fs
Surrounding Variants
12 papers
NM_145200.5
p.R124C
c.370C>T
1 paper
NM_145200.5
p.D123E
c.369C>A
1 paper
NM_145200.5
p.D123E
c.369C>G
2 papers
NM_145200.5
p.R124H
c.371G>A
1 paper
NM_145200.5
p.R124delFs
c.370delC
1 paper
NM_145200.5
p.R124R
c.372C>T
1 paper
NM_145200.5
p.E125Q
c.373G>C
1 paper
NM_145200.5
p.K122_D123Splc
c.367-1G>C
1 paper
NM_145200.5
p.G127D
c.380G>A
1 paper
NM_145200.5
p.E133Splc
c.398-2A>G
1 paper
NM_145200.5
p.Q135*
c.403C>T
2 papers
NM_145200.5
p.E139*
c.415G>T
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