Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.T150N

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.T150N
c.449C>A
Surrounding Variants
1 paper
NM_005159.5
p.T151A
c.451A>G
1 paper
NM_005159.5
p.R149H
c.446G>A
1 paper
NM_005159.5
p.G148D
c.443G>A
2 papers
NM_005159.5
p.G152Splc
c.454+9G>A
3 papers
NM_005159.5
p.L144Q
c.431T>A
1 paper
NM_005159.5
p.L142P
c.425T>C
1 paper
NM_005159.5
p.L142L
c.424C>T
1 paper
NM_005159.5
p.A140S
c.418G>T
1 paper
NM_005159.5
p.A140P
c.418G>C
1 paper
NM_005159.5
p.I138M
c.414C>G
1 paper
NM_005159.5
p.V136A
c.407T>C
1 paper
NM_005159.5
p.Y135Y
c.405C>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."