Varaico: Literature-Extracted Genetic Variants

Gene:ARPC1A
Variant:p.V43L

ARPC1A

27 papers

RefSeq Summary

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The simi...

Pfam Domains

WD40aa 42–80UCSCWD domain, G-beta repeat
WD40aa 134–170UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

actin related protein 2/3 complex subunit 1A

HGNC Alias Symbols

SOP2Hs; SOP2L; Arc40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006409.4
p.V43L
c.127G>T
Surrounding Variants
1 paper
NM_006409.4
p.V43L
c.127G>C
1 paper
NM_006409.4
p.K44N
c.132A>C
1 paper
NM_006409.4
p.K44N
c.132A>T
1 paper
NM_006409.4
p.K37N
c.111G>C
1 paper
NM_006409.4
p.K37N
c.111G>T
2 papers
NM_006409.4
p.H33R
c.98A>G
1 paper
NM_006409.4
p.H33L
c.98A>T
1 paper
NM_006409.4
p.V32M
c.94G>A
1 paper
NM_006409.4
p.E31K
c.91G>A
1 paper
NM_006409.4
p.H30L
c.89A>T
1 paper
NM_006409.4
p.T56I
c.167C>T
1 paper
NM_006409.4
p.Q22*
c.64C>T
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