Varaico: Literature-Extracted Genetic Variants

Gene:CAPZA1
Variant:p.S219S

CAPZA1

51 papers

RefSeq Summary

CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament...

Pfam Domains

F-actin_cap_Aaa 17–282UCSCF-actin capping protein alpha subunit

Gene Aliases

HGNC Name

capping actin protein of muscle Z-line subunit alpha 1

HGNC Alias Symbol

CAPPA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006135.3
p.S219S
c.657G>A
Surrounding Variants
2 papers
NM_006135.3
p.S219L
c.656C>T
1 paper
NM_006135.3
p.T253I
c.758C>T
1 paper
NM_006135.3
p.F255F
c.765C>T
1 paper
NM_006135.3
p.K256E
c.766A>G
1 paper
NM_006135.3
p.R259C
c.775C>T
1 paper
NM_006135.3
p.T265A
c.793A>G
1 paper
NM_006135.3
p.R266H
c.797G>A
1 paper
NM_006135.3
p.K281R
c.842A>G
1 paper
NM_006135.3
p.Q187P
c.560A>C
1 paper
NM_006135.3
p.S175*
c.524C>A
1 paper
NM_006135.3
p.S175*
c.524C>G
1 paper
NM_006135.3
p.W169Splc
c.506+1G>A
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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."