Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.N71_P74del4

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.N71_P74del4
c.211_221del12
Surrounding Variants
1 paper
NM_145200.5
p.N71_N72insFs
c.211_214dup4
1 paper
NM_145200.5
p.N72S
c.215A>G
1 paper
NM_145200.5
p.G68fs
c.202_203fs
1 paper
NM_145200.5
p.P74T
c.220C>A
1 paper
NM_145200.5
p.P74S
c.220C>T
1 paper
NM_145200.5
p.P74L
c.221C>T
1 paper
NM_145200.5
p.G77E
c.230G>A
1 paper
NM_145200.5
p.E78Q
c.232G>C
1 paper
NM_145200.5
p.E65_P67insFs
c.194_201dup8
1 paper
NM_145200.5
p.Q61H
c.183G>C
1 paper
NM_145200.5
p.Q61H
c.183G>T
1 paper
NM_145200.5
p.Q61*
c.181C>T
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