Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.Y135*

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.Y135*
c.405C>A
Surrounding Variants
1 paper
NM_005159.5
p.Y135Y
c.405C>T
1 paper
NM_005159.5
p.Y135*
c.405C>G
1 paper
NM_005159.5
p.V136A
c.407T>C
1 paper
NM_005159.5
p.M134V
c.400A>G
1 paper
NM_005159.5
p.I138M
c.414C>G
1 paper
NM_005159.5
p.A140S
c.418G>T
1 paper
NM_005159.5
p.A140P
c.418G>C
1 paper
NM_005159.5
p.L142L
c.424C>T
1 paper
NM_005159.5
p.L142P
c.425T>C
4 papers
NM_005159.5
p.T128I
c.383C>T
4 papers
NM_005159.5
p.T128A
c.382A>G
3 papers
NM_005159.5
p.L144Q
c.431T>A
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