Varaico: Literature-Extracted Genetic Variants

Gene:ARPC1B
Variant:p.L279R

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.L279R
c.836T>G
Surrounding Variants
1 paper
NM_005720.4
p.L279insFs
c.835_836insAT
1 paper
NM_005720.4
p.L279fs
c.835_836fs
1 paper
NM_005720.4
p.M278fs
c.832_833fs
1 paper
NM_005720.4
p.M278delFs
c.833_834delTG
1 paper
NM_005720.4
p.G277V
c.830G>T
3 papers
NM_005720.4
p.P288delFs
c.863delC
2 papers
NM_005720.4
p.P288fs
c.862_863fs
1 paper
NM_005720.4
p.C265G
c.793T>G
1 paper
NM_005720.4
p.A261_G262Splc
c.784-1G>A
4 papers
NM_005720.4
p.R299_N304delFs
c.897_910del14
2 papers
NM_005720.4
p.E300fs
c.898_899fs
1 paper
NM_005720.4
p.E300*
c.898G>T
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