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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARPC2

Variant:p.G25Splc

ARPC2

43 papers

RefSeq Summary

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

Pfam Domains

P34-Arcaa 57–284UCSCArp2/3 complex, 34 kD subunit p34-Arc

Gene Aliases

HGNC Name

actin related protein 2/3 complex subunit 2

HGNC Alias Symbols

p34-Arc; ARC34

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:218217546 T>G

NM_152862.3

p.G25Splc

c.74+2T>G

exact variant not in gnomAD100 overlapping SVs

Surrounding Variants

1 paper

chr2:218217544 G>T

NM_152862.3

p.G25V

c.74G>T

exact variant not in gnomAD100 overlapping SVs

1 paper

chr2:218217558 C>T

NM_152862.3

p.G25Splc

c.74+14C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a100 overlapping SVs

1 paper

chr2:218217483 GAG>N

NM_152862.3

p.E5fs

c.13_14fs

exact variant not in gnomAD100 overlapping SVs

2 papers

chr2:218217477 C>T

NM_152862.3

p.L3L

c.7C>T

Exome: 0.6% (AC=9376, hom=74)Genome: 0.6% (AC=978, hom=11)100 overlapping SVs

1 paper

chr2:218225936 G>A

NM_152862.3

p.V31I

c.91G>A

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)100 overlapping SVs

1 paper

chr2:218225956 T>C

NM_152862.3

p.D37Splc

c.109+2T>C

exact variant not in gnomAD100 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."