Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.T7insFs

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.T7insFs
c.20_21insT
Surrounding Variants
1 paper
NM_005159.5
p.E6K
c.16G>A
2 papers
NM_005159.5
p.T8insFs
c.23dupC
1 paper
NM_005159.5
p.E5insFs
c.13dupG
1 paper
NM_005159.5
p.L10insFs
c.28_29insA
15 papers
NM_005159.5
p.L10M
c.28C>A
1 paper
NM_005159.5
p.D4V
c.11A>T
4 papers
NM_005159.5
p.D4H
c.10G>C
1 paper
NM_005159.5
p.D4N
c.10G>A
2 papers
NM_005159.5
p.V11L
c.31G>T
2 papers
NM_005159.5
p.V11L
c.31G>C
1 paper
NM_005159.5
p.D3D
c.9C>T
1 paper
NM_005159.5
p.D3V
c.8A>T
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