Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.D224N

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.D224N
c.670G>A
Surrounding Variants
2 papers
NM_005159.5
p.D224Y
c.670G>T
1 paper
NM_005159.5
p.D224H
c.670G>C
1 paper
NM_005159.5
p.L223delFs
c.667delG
1 paper
NM_005159.5
p.E226Q
c.676G>C
1 paper
NM_005159.5
p.A222P
c.664G>C
6 papers
NM_005159.5
p.A222T
c.664G>A
1 paper
NM_005159.5
p.E226G
c.677A>G
1 paper
NM_005159.5
p.D224_E226delFs
c.670_676del7
2 papers
NM_005159.5
p.V221_N227insFs
c.663_679dup17
2 papers
NM_005159.5
p.Y220S
c.659A>C
3 papers
NM_005159.5
p.Y220H
c.658T>C
1 paper
NM_005159.5
p.M229V
c.685A>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."