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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPZA3

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 37 variants

3 papers

chr12:18738383 C>T

NM_033328.3

p.R39C

c.115C>T

F-actin_cap_A

Exome: 0.7% (AC=9544, hom=42)Genome: 0.5% (AC=803, hom=7)15 overlapping SVs

2 papers

chr12:18738384 G>A

NM_033328.3

p.R39H

c.116G>A

F-actin_cap_A

Exome: 0.8% (AC=12204, hom=68)Genome: 0.5% (AC=793, hom=2)15 overlapping SVs

2 papers

chr12:18738729 G>T

NM_033328.3

p.C154F

c.461G>T

F-actin_cap_A

Exome: 0.2% (AC=3572, hom=18)Genome: 0.3% (AC=394, hom=2)15 overlapping SVs

2 papers

chr12:18738769 C>A

NM_033328.3

p.N167K

c.501C>A

F-actin_cap_A

Exome: 0.8% (AC=12219, hom=63)Genome: 0.7% (AC=1051, hom=5)15 overlapping SVs

2 papers

chr12:18738769 C>G

NM_033328.3

p.N167K

c.501C>G

F-actin_cap_A

exact variant not in gnomAD15 overlapping SVs

2 papers

chr12:18738777 G>A

NM_033328.3

p.W170*

c.509G>A

F-actin_cap_A

exact variant not in gnomAD15 overlapping SVs

2 papers

chr12:18738778 G>A

NM_033328.3

p.W170*

c.510G>A

F-actin_cap_A

exact variant not in gnomAD15 overlapping SVs

1 paper

chr12:18738288 G>A

NM_033328.3

p.S7N

c.20G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr12:18738306 G>C

NM_033328.3

p.R13T

c.38G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr12:18738399 T>A

NM_033328.3

p.M44K

c.131T>A

F-actin_cap_A

exact variant not in gnomAD15 overlapping SVs

1 paper

chr12:18738449 G>C

NM_033328.3

p.V61L

c.181G>C

F-actin_cap_A

exact variant not in gnomAD15 overlapping SVs

1 paper

chr12:18738449 G>T

NM_033328.3

p.V61L

c.181G>T

F-actin_cap_A

exact variant not in gnomAD15 overlapping SVs

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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."