Varaico: Literature-Extracted Genetic Variants

Gene:CABP4

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
1–12 of 138 variants
23 papers
NM_145200.5
p.R216*
c.646C>T
13 papers
NM_145200.5
p.T27_P28insFs
c.81_82insA
12 papers
NM_145200.5
p.A81_G82insA
c.241_245ins3
12 papers
NM_145200.5
p.R124C
c.370C>T
12 papers
NM_145200.5
p.G155D
c.464G>A
10 papers
NM_145200.5
p.E267delFs
c.800_801delAG
8 papers
NM_145200.5
p.P28fs
c.82_83fs
6 papers
NM_145200.5
p.M1V
c.1A>G
5 papers
NM_145200.5
p.R225*
c.673C>T
5 papers
NM_145200.5
p.N258I
c.773A>T
4 papers
NM_145200.5
p.R98*
c.292C>T
3 papers
NM_145200.5
p.P22delFs
c.65delC
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