Varaico: Literature-Extracted Genetic Variants

Gene:ARPC1B
Variant:p.L240Q

ARPC1B

118 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 ARPC1A. The simi...

Pfam Domains

WD40aa 42–80UCSCWD domain, G-beta repeat
WD40aa 133–170UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

actin related protein 2/3 complex subunit 1B

HGNC Alias Symbols

ARC41; p40-ARC; p41-ARC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005720.4
p.L240Q
c.719T>A
Surrounding Variants
4 papers
NM_005720.4
p.A238T
c.712G>A
3 papers
NM_005720.4
p.A236Splc
c.708-1G>A
1 paper
NM_005720.4
p.T244T
c.732A>T
1 paper
NM_005720.4
p.L247_L248delFs
c.739_743del5
2 papers
NM_005720.4
p.L247fs
c.739_740fs
1 paper
NM_005720.4
p.L250P
c.749T>C
1 paper
NM_005720.4
p.T251I
c.752C>T
1 paper
NM_005720.4
p.D255delFs
c.763_764delGA
1 paper
NM_005720.4
p.D255fs
c.763_764fs
1 paper
NM_005720.4
p.S257N
c.770G>A
1 paper
NM_005720.4
p.V259M
c.775G>A
6 papers
NM_005720.4
p.A261A
c.783G>A
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