Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.R169H

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
2 papers
NM_001300895.3
p.R169H
c.506G>A
NM_145200.5
p.R274H
c.821G>A
Surrounding Variants
2 papers
NM_145200.5
p.E267fs
c.799_800fs
1 paper
NM_145200.5
p.E267Splc
c.800-2A>G
10 papers
NM_145200.5
p.E267delFs
c.800_801delAG
1 paper
NM_145200.5
p.D266Fs
c.796_797delinsGAACTTFs
1 paper
NM_145200.5
p.F265V
c.793T>G
5 papers
NM_145200.5
p.N258I
c.773A>T
1 paper
NM_145200.5
p.E254Q
c.760G>C
1 paper
NM_145200.5
p.R253*
c.757C>T
1 paper
NM_145200.5
p.L248P
c.743T>C
1 paper
NM_145200.5
p.E247*
c.739G>T
1 paper
NM_145200.5
p.G245insFs
c.733dupG
1 paper
NM_145200.5
p.V235A
c.704T>C
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