Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.S92fs

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.S92fs
c.274_275fs
Surrounding Variants
1 paper
NM_145200.5
p.A91delFs
c.273delC
1 paper
NM_145200.5
p.S93delFs
c.278delC
2 papers
NM_145200.5
p.R94H
c.281G>A
1 paper
NM_145200.5
p.P88L
c.263C>T
1 paper
NM_145200.5
p.Q95Q
c.285G>A
4 papers
NM_145200.5
p.R98*
c.292C>T
3 papers
NM_145200.5
p.R98Q
c.293G>A
1 paper
NM_145200.5
p.P85fs
c.253_254fs
1 paper
NM_145200.5
p.R100S
c.298C>A
1 paper
NM_145200.5
p.P84A
c.250C>G
2 papers
NM_145200.5
p.R100C
c.298C>T
1 paper
NM_145200.5
p.P85delFs
c.254delC
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