Varaico: Literature-Extracted Genetic Variants

Gene:CAPZB
Variant:p.R14delFs

CAPZB

36 papers

RefSeq Summary

This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that block...

Pfam Domains

F_actin_cap_Baa 32–254UCSCF-actin capping protein, beta subunit

Gene Aliases

HGNC Name

capping actin protein of muscle Z-line subunit beta

HGNC Previous Names

capping protein (actin filament) muscle Z-line, beta; capping actin protein of muscle Z-line beta subunit

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004930.5
p.R14delFs
c.42delC
Surrounding Variants
1 paper
NM_004930.5
p.L12L
c.34C>T
2 papers
NM_004930.5
p.K23T
c.68A>C
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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."