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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTR3B

Variant:p.C34Splc

ACTR3B

30 papers

RefSeq Summary

This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may hav...

Pfam Domains

Actinaa 3–411UCSCActin

Gene Aliases

HGNC Name

actin related protein 3B

HGNC Alias Symbols

ARP11; ARP3beta

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:152800455 A>T

NM_020445.6

p.C34Splc

c.101-76A>T

Exome: 0.4% (AC=4779, hom=0)Genome: 10.4% (AC=9097, hom=0)21 overlapping SVs

Surrounding Variants

3 papers

chr7:152800571 T>C

NM_020445.6

p.A47A

c.141T>C

Actin

Exome: 0.4% (AC=4941, hom=0)Genome: 1.8% (AC=1785, hom=0)21 overlapping SVs

1 paper

chr7:152800586 G>C

NM_020445.6

p.L52F

c.156G>C

Actin

exact variant not in gnomAD21 overlapping SVs

1 paper

chr7:152800586 G>T

NM_020445.6

p.L52F

c.156G>T

Actin

Exome: 0.0% (AC=1, hom=0)Genome: n/a21 overlapping SVs

1 paper

chr7:152800655 G>A

NM_020445.6

p.K75K

c.225G>A

Actin

exact variant not in gnomAD21 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."