Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.E167Q

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.E167Q
c.499G>C
Surrounding Variants
1 paper
NM_145200.5
p.E167K
c.499G>A
1 paper
NM_145200.5
p.E169E
c.507G>A
1 paper
NM_145200.5
p.M164L
c.490A>C
1 paper
NM_145200.5
p.G162A
c.485G>C
1 paper
NM_145200.5
p.L161R
c.482T>G
1 paper
NM_145200.5
p.Q175_H176insFs
c.524_527dup4
1 paper
NM_145200.5
p.I177S
c.530T>G
12 papers
NM_145200.5
p.G155D
c.464G>A
2 papers
NM_145200.5
p.R180C
c.538C>T
1 paper
NM_145200.5
p.R152Q
c.455G>A
1 paper
NM_145200.5
p.M181Splc
c.541+7C>G
2 papers
NM_145200.5
p.M181Splc
c.541+8A>C
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