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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARPC3

Variant:p.N122I

ARPC3

19 papers

RefSeq Summary

This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in...

Pfam Domains

P21-Arcaa 1–173UCSCARP2/3 complex ARPC3 (21 kDa) subunit

Gene Aliases

HGNC Name

actin related protein 2/3 complex subunit 3

HGNC Alias Symbols

p21-Arc; ARC21

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:110436571 T>A

NM_001278556.2

p.N122I

c.365A>T

P21-Arc

Exome: 0.2% (AC=2910, hom=7)Genome: 0.1% (AC=210, hom=0)22 overlapping SVs

Surrounding Variants

1 paper

chr12:110436593 C>T

NM_001278556.2

p.A115T

c.343G>A

P21-Arc

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=3, hom=0)21 overlapping SVs

1 paper

chr12:110436662 CA>C

NM_001278556.2

p.G91delFs

c.273delA

P21-Arc

exact variant not in gnomAD21 overlapping SVs

1 paper

chr12:110436662 CTC>N

NM_001278556.2

p.E92fs

c.274_275fs

P21-Arc

exact variant not in gnomAD21 overlapping SVs

1 paper

chr12:110440365 C>T

NM_001278556.2

p.E44K

c.130G>A

P21-Arc

exact variant not in gnomAD23 overlapping SVs

1 paper

chr12:110440389 C>T

NM_001278556.2

p.T36Splc

c.107-1G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a23 overlapping SVs

1 paper

chr12:110445496 A>T

NM_001278556.2

p.L21Q

c.62T>A

P21-Arc

Exome: 0.0% (AC=29, hom=1)Genome: 0.0% (AC=2, hom=0)24 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."