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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPZA1

Variant:p.E11K

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:112619875 G>A

NM_006135.3

p.E11K

c.31G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a239 overlapping SVs

Surrounding Variants

3 papers

chr1:112619878 G>A

NM_006135.3

p.E12K

c.34G>A

Exome: 0.4% (AC=5619, hom=24)Genome: 0.2% (AC=343, hom=2)239 overlapping SVs

2 papers

chr1:112619872 G>A

NM_006135.3

p.D10N

c.28G>A

Exome: 1.7% (AC=24633, hom=276)Genome: 1.3% (AC=1907, hom=21)239 overlapping SVs

2 papers

chr1:112619870 C>T

NM_006135.3

p.S9L

c.26C>T

Exome: 0.0% (AC=82, hom=1)Genome: 0.0% (AC=17, hom=0)239 overlapping SVs

1 paper

chr1:112619860 G>T

NM_006135.3

p.D6Y

c.16G>T

Exome: 0.0% (AC=173, hom=1)Genome: 0.1% (AC=176, hom=0)239 overlapping SVs

1 paper

chr1:112619858 A>G

NM_006135.3

p.D5G

c.14A>G

Exome: 0.0% (AC=15, hom=0)Genome: n/a239 overlapping SVs

1 paper

chr1:112619849 C>T

NM_006135.3

p.A2V

c.5C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a239 overlapping SVs

1 paper

chr1:112620164 C>T

NM_006135.3

p.K13_V14Splc

c.39+281C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a239 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."