Varaico: Literature-Extracted Genetic Variants

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.Y64*

c.192C>A

Surrounding Variants

1 paper

NM_004930.5

p.Y64*

c.192C>G

1 paper

NM_004930.5

p.V55M

c.163G>A

1 paper

NM_004930.5

p.D52A

c.155A>C

1 paper

NM_004930.5

p.D38H

c.112G>C

1 paper

NM_004930.5

p.E84K

c.250G>A

1 paper

NM_004930.5

p.M88I

c.264G>T

1 paper

NM_004930.5

p.M88I

c.264G>C

1 paper

NM_004930.5

p.M88I

c.264G>A

1 paper

NM_004930.5

p.R94G

c.280A>G

1 paper

NM_004930.5

p.Q106L

c.317A>T