Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.N94I

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.N94I
c.281A>T
Surrounding Variants
7 papers
NM_005159.5
p.N94S
c.281A>G
1 paper
NM_005159.5
p.N94H
c.280A>C
3 papers
NM_005159.5
p.Y93C
c.278A>G
2 papers
NM_005159.5
p.F92del1
c.274_275delGAA
2 papers
NM_005159.5
p.Y93H
c.277T>C
1 paper
NM_005159.5
p.E95D
c.285G>T
1 paper
NM_005159.5
p.E95D
c.285G>C
1 paper
NM_005159.5
p.L96F
c.286C>T
1 paper
NM_005159.5
p.L96P
c.287T>C
1 paper
NM_005159.5
p.F92Y
c.275T>A
7 papers
NM_005159.5
p.R97C
c.289C>T
2 papers
NM_005159.5
p.R97L
c.290G>T
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