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

1–12 of 36 variants

2 papers

NM_004930.5

p.K23T

c.68A>C

1 paper

NM_004930.5

p.M1_S2Splc

c.4-18788G>A

1 paper

NM_004930.5

p.L12L

c.34C>T

1 paper

NM_004930.5

p.R14delFs

c.42delC

1 paper

NM_004930.5

p.D38H

c.112G>C

1 paper

NM_004930.5

p.D52A

c.155A>C

1 paper

NM_004930.5

p.V55M

c.163G>A

1 paper

NM_004930.5

p.Y64*

c.192C>G

1 paper

NM_004930.5

p.Y64*

c.192C>A

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