Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.D102Y

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.D102Y
c.304G>T
Surrounding Variants
1 paper
NM_145200.5
p.R100S
c.298C>A
2 papers
NM_145200.5
p.R100C
c.298C>T
1 paper
NM_145200.5
p.H105_A107delFs
c.314_320del7
1 paper
NM_145200.5
p.H105fs
c.313_314fs
1 paper
NM_145200.5
p.D106_T111del6
c.316_332del18
3 papers
NM_145200.5
p.R98Q
c.293G>A
4 papers
NM_145200.5
p.R98*
c.292C>T
1 paper
NM_145200.5
p.A107P
c.319G>C
1 paper
NM_145200.5
p.Q95Q
c.285G>A
2 papers
NM_145200.5
p.R94H
c.281G>A
1 paper
NM_145200.5
p.S93delFs
c.278delC
2 papers
NM_145200.5
p.Y112_G113ins4
c.334_338ins12
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