Varaico: Literature-Extracted Genetic Variants

Gene:CAPZA3
Variant:p.V293L

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
1 paper
NM_033328.3
p.V293L
c.877G>C
Surrounding Variants
1 paper
NM_033328.3
p.V293L
c.877G>T
1 paper
NM_033328.3
p.M280L
c.838A>C
1 paper
NM_033328.3
p.M280L
c.838A>T
1 paper
NM_033328.3
p.R264H
c.791G>A
1 paper
NM_033328.3
p.R264C
c.790C>T
1 paper
NM_033328.3
p.D259N
c.775G>A
1 paper
NM_033328.3
p.R257Q
c.770G>A
1 paper
NM_033328.3
p.R257L
c.770G>T
1 paper
NM_033328.3
p.R257*
c.769C>T
1 paper
NM_033328.3
p.L256I
c.766C>A
1 paper
NM_033328.3
p.V240A
c.719T>C
1 paper
NM_033328.3
p.S206F
c.617C>T
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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."