Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.G247S

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.G247S
c.739G>A
Surrounding Variants
1 paper
NM_005159.5
p.G247A
c.740G>C
10 papers
NM_005159.5
p.G247D
c.740G>A
1 paper
NM_005159.5
p.Q248K
c.742C>A
1 paper
NM_005159.5
p.Q248R
c.743A>G
2 papers
NM_005159.5
p.I250T
c.749T>C
2 papers
NM_005159.5
p.I250M
c.750C>G
1 paper
NM_005159.5
p.E243K
c.727G>A
5 papers
NM_005159.5
p.T251S
c.751A>T
7 papers
NM_005159.5
p.T251A
c.751A>G
1 paper
NM_005159.5
p.E243fs
c.727_728fs
2 papers
NM_005159.5
p.T251I
c.752C>T
5 papers
NM_005159.5
p.T251S
c.752C>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."