Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.D4V

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.D4V
c.11A>T
Surrounding Variants
4 papers
NM_005159.5
p.D4H
c.10G>C
1 paper
NM_005159.5
p.D4N
c.10G>A
1 paper
NM_005159.5
p.D3D
c.9C>T
1 paper
NM_005159.5
p.D3V
c.8A>T
1 paper
NM_005159.5
p.E5insFs
c.13dupG
1 paper
NM_005159.5
p.D3Y
c.7G>T
3 papers
NM_005159.5
p.D3H
c.7G>C
1 paper
NM_005159.5
p.D3N
c.7G>A
1 paper
NM_005159.5
p.E6K
c.16G>A
1 paper
NM_005159.5
p.C2insFs
c.4dupT
1 paper
NM_005159.5
p.C2Y
c.5G>A
1 paper
NM_005159.5
p.C2Fs
c.4delinsGCFs
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