Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.A230V

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.A230V
c.689C>T
Surrounding Variants
1 paper
NM_005159.5
p.A230P
c.688G>C
2 papers
NM_005159.5
p.A230T
c.688G>A
1 paper
NM_005159.5
p.M229T
c.686T>C
1 paper
NM_005159.5
p.T231I
c.692C>T
6 papers
NM_005159.5
p.T231R
c.692C>G
1 paper
NM_005159.5
p.M229V
c.685A>G
1 paper
NM_005159.5
p.T231insFs
c.693dupA
4 papers
NM_005159.5
p.A232T
c.694G>A
10 papers
NM_005159.5
p.A232V
c.695C>T
1 paper
NM_005159.5
p.A233V
c.698C>T
1 paper
NM_005159.5
p.A233G
c.698C>G
2 papers
NM_005159.5
p.V221_N227insFs
c.663_679dup17
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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."