Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.A21V

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
12 papers
NM_005159.5
p.A21V
c.62C>T
Surrounding Variants
1 paper
NM_005159.5
p.K20fs
c.58_59fs
9 papers
NM_005159.5
p.F23L
c.67T>C
2 papers
NM_005159.5
p.V19fs
c.55_56fs
2 papers
NM_005159.5
p.V19_K20insFs
c.57_58insCA
1 paper
NM_005159.5
p.V19insFs
c.56_57insCA
9 papers
NM_005159.5
p.F23L
c.69T>G
9 papers
NM_005159.5
p.F23L
c.69T>A
1 paper
NM_005159.5
p.A24S
c.70G>T
1 paper
NM_005159.5
p.D26Y
c.76G>T
17 papers
NM_005159.5
p.D26N
c.76G>A
1 paper
NM_005159.5
p.D27N
c.79G>A
1 paper
NM_005159.5
p.G15R
c.43G>C
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