Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.R208H

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
6 papers
NM_005159.5
p.R208H
c.623G>A
Surrounding Variants
1 paper
NM_005159.5
p.R208C
c.622C>T
2 papers
NM_005159.5
p.R208S
c.622C>A
1 paper
NM_005159.5
p.E209A
c.626A>C
1 paper
NM_005159.5
p.V211I
c.631G>A
8 papers
NM_005159.5
p.R212H
c.635G>A
3 papers
NM_005159.5
p.A206Splc
c.617-7T>C
1 paper
NM_005159.5
p.A206Splc
c.617-10A>G
1 paper
NM_005159.5
p.K217N
c.651G>T
1 paper
NM_005159.5
p.K217N
c.651G>C
3 papers
NM_005159.5
p.Y220H
c.658T>C
2 papers
NM_005159.5
p.Y220S
c.659A>C
1 paper
NM_005159.5
p.A222P
c.664G>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."