Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.V300V

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
1 paper
NM_005159.5
p.V300V
c.900C>G
Surrounding Variants
2 papers
NM_005159.5
p.L301L
c.903A>G
16 papers
NM_005159.5
p.A297S
c.889G>T
1 paper
NM_005159.5
p.G304D
c.911G>A
1 paper
NM_005159.5
p.Y296*
c.888T>G
1 paper
NM_005159.5
p.Y296*
c.888T>A
6 papers
NM_005159.5
p.Y296H
c.886T>C
1 paper
NM_005159.5
p.Y296N
c.886T>A
1 paper
NM_005159.5
p.T305I
c.914C>T
1 paper
NM_005159.5
p.T306T
c.918T>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.Y308H
c.922T>C
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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."