Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.S54F

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.S54F
c.161C>T
Surrounding Variants
1 paper
NM_005159.5
p.K52del1
c.154_156delCTT
1 paper
NM_005159.5
p.V56_G57insCA
c.166_170ins6
2 papers
NM_005159.5
p.V56I
c.166G>A
1 paper
NM_005159.5
p.K52R
c.155A>G
2 papers
NM_005159.5
p.K52T
c.155A>C
2 papers
NM_005159.5
p.G57_D58insCA
c.169_173ins6
1 paper
NM_005159.5
p.G57D
c.170G>A
4 papers
NM_005159.5
p.M49L
c.145A>T
1 paper
NM_005159.5
p.E59D
c.177A>T
4 papers
NM_005159.5
p.M49L
c.145A>C
1 paper
NM_005159.5
p.E59D
c.177A>C
1 paper
NM_005159.5
p.A60V
c.179C>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."