Varaico: Literature-Extracted Genetic Variants

Gene:CABP4
Variant:p.E254Q

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.E254Q
c.760G>C
Surrounding Variants
1 paper
NM_145200.5
p.R253*
c.757C>T
5 papers
NM_145200.5
p.N258I
c.773A>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.F265V
c.793T>G
1 paper
NM_145200.5
p.D266Fs
c.796_797delinsGAACTTFs
1 paper
NM_145200.5
p.V235A
c.704T>C
1 paper
NM_145200.5
p.E233del1
c.697_698delGAG
1 paper
NM_145200.5
p.V228L
c.682G>T
5 papers
NM_145200.5
p.R225*
c.673C>T
1 paper
NM_145200.5
p.D223fs
c.667_668fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."