Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_145200.5
p.M1_T2insFs
c.3_4insT
2 papers
NM_145200.5
p.M1T
c.2T>C
1 paper
NM_145200.5
p.M1insFs
c.3dupG
1 paper
NM_145200.5
p.M1insFs
c.2dupT
6 papers
NM_145200.5
p.M1V
c.1A>G
1 paper
NM_145200.5
p.A6T
c.16G>A
1 paper
NM_145200.5
p.A6V
c.17C>T
1 paper
NM_145200.5
p.R7K
c.20G>A
1 paper
NM_145200.5
p.Q9Q
c.27G>A
1 paper
NM_145200.5
p.R18H
c.53G>A
3 papers
NM_145200.5
p.P22delFs
c.65delC
1 paper
NM_145200.5
p.P21fs
c.61_62fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."