Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.D181H

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.D181H
c.541G>C
Surrounding Variants
1 paper
NM_005159.5
p.D181N
c.541G>A
1 paper
NM_005159.5
p.D181G
c.542A>G
1 paper
NM_005159.5
p.D181delFs
c.541delC
1 paper
NM_005159.5
p.R179H
c.536G>A
9 papers
NM_005159.5
p.M178L
c.532A>T
9 papers
NM_005159.5
p.M178L
c.532A>C
1 paper
NM_005159.5
p.G184D
c.551G>A
1 paper
NM_005159.5
p.G184G
c.552T>A
7 papers
NM_005159.5
p.R185W
c.553C>T
1 paper
NM_005159.5
p.R185G
c.553C>G
2 papers
NM_005159.5
p.I177V
c.529A>G
1 paper
NM_005159.5
p.R185L
c.554G>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."