Varaico: Literature-Extracted Genetic Variants

Gene:CAPZA2
Variant:p.R259_R260del1

CAPZA2

38 papers

RefSeq Summary

The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of ac...

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 2

HGNC Alias Symbols

CAPZ; CAPPA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006136.3
p.R259_R260del1
c.777_779delTCG
Surrounding Variants
1 paper
NM_006136.3
p.R259G
c.775C>G
5 papers
NM_006136.3
p.R259L
c.776G>T
1 paper
NM_006136.3
p.R260del1
c.778_779delCGA
6 papers
NM_006136.3
p.K256E
c.766A>G
1 paper
NM_006136.3
p.A225S
c.673G>T
1 paper
NM_006136.3
p.H209Y
c.625C>T
1 paper
NM_006136.3
p.Q187R
c.560A>G
1 paper
NM_006136.3
p.Q187*
c.559C>T
1 paper
NM_006136.3
p.W173_R174insFs
c.519_520insC
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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."