Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.M315K

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.M315K
c.944T>A
Surrounding Variants
14 papers
NM_005159.5
p.R314H
c.941G>A
8 papers
NM_005159.5
p.R314C
c.940C>T
8 papers
NM_005159.5
p.D313H
c.937G>C
1 paper
NM_005159.5
p.E318K
c.952G>A
1 paper
NM_005159.5
p.I311V
c.931A>G
1 paper
NM_005159.5
p.G310_I311insC
c.928_932ins3
2 papers
NM_005159.5
p.P309P
c.927T>C
1 paper
NM_005159.5
p.A321V
c.962C>T
1 paper
NM_005159.5
p.P309_G310insCT
c.925_929ins6
1 paper
NM_005159.5
p.P309_G310insCCT
c.925_929ins9
1 paper
NM_005159.5
p.P309_G310ins4
c.925_929ins12
1 paper
NM_005159.5
p.Y308H
c.922T>C
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