Varaico: Literature-Extracted Genetic Variants

Gene:CAPZA1
Variant:p.R37Q

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.R37Q
c.110G>A
Surrounding Variants
2 papers
NM_006135.3
p.N44S
c.131A>G
1 paper
NM_006135.3
p.L45F
c.133C>T
1 paper
NM_006135.3
p.R47_E48delFs
c.141_142delGG
1 paper
NM_006135.3
p.G49R
c.145G>A
1 paper
NM_006135.3
p.G49R
c.145G>C
1 paper
NM_006135.3
p.V32L
c.94G>C
1 paper
NM_006135.3
p.V32L
c.94G>T
1 paper
NM_006135.3
p.V65L
c.193G>C
1 paper
NM_006135.3
p.V65L
c.193G>T
1 paper
NM_006135.3
p.G80S
c.238G>A
1 paper
NM_006135.3
p.P90S
c.268C>T
1 paper
NM_006135.3
p.P90Q
c.269C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."