Varaico: Literature-Extracted Genetic Variants

Gene:CABP5
Variant:p.D28E

CABP5

26 papers

RefSeq Summary

The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular sign...

Pfam Domains

EF-hand_7aa 30–94UCSCEF-hand domain pair
EF-hand_7aa 107–172UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calcium binding protein 5

HGNC Previous Symbol

CABP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019855.5
p.D28E
c.84T>A
Surrounding Variants
2 papers
NM_019855.5
p.D28E
c.84T>G
1 paper
NM_019855.5
p.E29A
c.86A>C
1 paper
NM_019855.5
p.E29E
c.87G>A
1 paper
NM_019855.5
p.E31A
c.92A>C
1 paper
NM_019855.5
p.R34Q
c.101G>A
1 paper
NM_019855.5
p.D41G
c.122A>G
1 paper
NM_019855.5
p.R44Q
c.131G>A
1 paper
NM_019855.5
p.G46fs
c.136_137fs
2 papers
NM_019855.5
p.G46delFs
c.138delC
1 paper
NM_019855.5
p.F47fs
c.139_140fs
1 paper
NM_019855.5
p.M57L
c.169A>C
4 papers
NM_019855.5
p.T59M
c.176C>T
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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."