Varaico: Literature-Extracted Genetic Variants

Gene:CAPZA3
Variant:p.R39H

CAPZA3

34 papers

RefSeq Summary

This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immuno...

Pfam Domains

F-actin_cap_Aaa 15–278UCSCF-actin capping protein alpha subunit

Gene Aliases

HGNC Name

capping actin protein of muscle Z-line subunit alpha 3

HGNC Alias Symbols

Gsg3; CAPPA3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033328.3
p.R39H
c.116G>A
Surrounding Variants
3 papers
NM_033328.3
p.R39C
c.115C>T
1 paper
NM_033328.3
p.M44K
c.131T>A
1 paper
NM_033328.3
p.V61L
c.181G>C
1 paper
NM_033328.3
p.V61L
c.181G>T
1 paper
NM_033328.3
p.L63V
c.187C>G
1 paper
NM_033328.3
p.R13T
c.38G>C
1 paper
NM_033328.3
p.S7N
c.20G>A
1 paper
NM_033328.3
p.R82*
c.244C>T
1 paper
NM_033328.3
p.R82Q
c.245G>A
1 paper
NM_033328.3
p.E113K
c.337G>A
1 paper
NM_033328.3
p.V120V
c.360T>A
1 paper
NM_033328.3
p.D131E
c.393C>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."