Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.Y112*

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.Y112*
c.336C>G
Surrounding Variants
1 paper
NM_145200.5
p.Y112*
c.336C>A
2 papers
NM_145200.5
p.Y112_G113ins4
c.334_338ins12
1 paper
NM_145200.5
p.N117S
c.350A>G
1 paper
NM_145200.5
p.R118_V119delFs
c.353_357del5
2 papers
NM_145200.5
p.R118*
c.352C>T
1 paper
NM_145200.5
p.R118fs
c.352_353fs
1 paper
NM_145200.5
p.A107P
c.319G>C
1 paper
NM_145200.5
p.D106_T111del6
c.316_332del18
1 paper
NM_145200.5
p.H105fs
c.313_314fs
1 paper
NM_145200.5
p.G121insFs
c.363dupG
1 paper
NM_145200.5
p.H105_A107delFs
c.314_320del7
1 paper
NM_145200.5
p.K122fs
c.364_365fs
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