Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.P309P

ACTC1

400 papers

RefSeq Summary

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stran...

Pfam Domains

Actinaa 4–377UCSCActin

Gene Aliases

HGNC Name

actin alpha cardiac muscle 1

HGNC Alias Symbol

CMD1R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005159.5
p.P309P
c.927T>C
Surrounding Variants
1 paper
NM_005159.5
p.G310_I311insC
c.928_932ins3
1 paper
NM_005159.5
p.P309_G310insCT
c.925_929ins6
1 paper
NM_005159.5
p.P309_G310insCCT
c.925_929ins9
1 paper
NM_005159.5
p.P309_G310ins4
c.925_929ins12
1 paper
NM_005159.5
p.I311V
c.931A>G
1 paper
NM_005159.5
p.Y308H
c.922T>C
6 papers
NM_005159.5
p.M307L
c.919A>T
7 papers
NM_005159.5
p.M307L
c.919A>C
1 paper
NM_005159.5
p.T306T
c.918T>C
8 papers
NM_005159.5
p.D313H
c.937G>C
8 papers
NM_005159.5
p.R314C
c.940C>T
1 paper
NM_005159.5
p.T305I
c.914C>T
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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."