Varaico: Literature-Extracted Genetic Variants

Gene:ACTG2
Variant:p.R255C

ACTG2

150 papers

RefSeq Summary

Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified ...

Pfam Domains

Actinaa 3–376UCSCActin

Gene Aliases

HGNC Name

actin gamma 2, smooth muscle

HGNC Previous Symbols

ACTL3; ACTA3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001615.4
p.R255C
c.763C>T
Surrounding Variants
1 paper
NM_001615.4
p.R255H
c.764G>A
38 papers
NM_001615.4
p.R257C
c.769C>T
27 papers
NM_001615.4
p.R257H
c.770G>A
1 paper
NM_001615.4
p.Q247_V248delins
c.740_742delinsCAA
1 paper
NM_001615.4
p.Q247*
c.739C>T
3 papers
NM_001615.4
p.D245G
c.734A>G
1 paper
NM_001615.4
p.E227D
c.681G>C
1 paper
NM_001615.4
p.E227D
c.681G>T
1 paper
NM_001615.4
p.L217L
c.649C>T
5 papers
NM_001615.4
p.R211Q
c.632G>A
6 papers
NM_001615.4
p.R211*
c.631C>T
NM_001199893.2
p.R168*
c.502C>T
1 paper
NM_001615.4
p.E206G
c.617A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."