Varaico: Literature-Extracted Genetic Variants

Gene:ACTR2
Variant:p.E171*

ACTR2

78 papers

RefSeq Summary

The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface an...

Pfam Domains

Actinaa 3–390UCSCActin

Gene Aliases

HGNC Name

actin related protein 2

HGNC Alias Symbol

ARP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005722.4
p.E171*
c.511G>T
Surrounding Variants
1 paper
NM_005722.4
p.C167*
c.501C>A
1 paper
NM_005722.4
p.T164_H165delFs
c.491_495del5
1 paper
NM_005722.4
p.I184F
c.550A>T
1 paper
NM_005722.4
p.F204S
c.611T>C
1 paper
NM_005722.4
p.H206D
c.616C>G
1 paper
NM_005722.4
p.A208S
c.622G>T
1 paper
NM_005722.4
p.Y222S
c.665A>C
1 paper
NM_005722.4
p.S134fs
c.400_401fs
1 paper
NM_005722.4
p.E125_V126Splc
c.376-2A>G
1 paper
NM_005722.4
p.P112L
c.335C>T
1 paper
NM_005722.4
p.G94R
c.280G>A
1 paper
NM_005722.4
p.M74T
c.221T>C
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