Varaico: Literature-Extracted Genetic Variants

Gene:ACTR3
Variant:p.I129L

ACTR3

53 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 2–203UCSCActin
Actinaa 2–255UCSCActin
Actinaa 232–411UCSCActin

Gene Aliases

HGNC Name

actin related protein 3

HGNC Alias Symbol

ARP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005721.5
p.I129L
c.385A>T
Surrounding Variants
1 paper
NM_005721.5
p.T126A
c.376A>G
2 papers
NM_005721.5
p.E132K
c.394G>A
1 paper
NM_005721.5
p.P120P
c.360A>T
1 paper
NM_005721.5
p.A142G
c.425C>G
1 paper
NM_005721.5
p.V143delFs
c.428delT
1 paper
NM_005721.5
p.Q144_A145Splc
c.433-39T>G
1 paper
NM_005721.5
p.L147V
c.439C>G
1 paper
NM_005721.5
p.T162M
c.485C>T
1 paper
NM_005721.5
p.G171*
c.511G>T
1 paper
NM_005721.5
p.V177I
c.529G>A
1 paper
NM_005721.5
p.L111F
c.331C>T
1 paper
NM_005721.5
p.R102K
c.305G>A
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