Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.K193N

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
2 papers
NM_005159.5
p.K193N
c.579G>T
Surrounding Variants
2 papers
NM_005159.5
p.K193N
c.579G>C
1 paper
NM_005159.5
p.L191F
c.571C>T
1 paper
NM_005159.5
p.Y190*
c.570C>G
1 paper
NM_005159.5
p.Y190*
c.570C>A
1 paper
NM_005159.5
p.Y190C
c.569A>G
1 paper
NM_005159.5
p.E197G
c.590A>G
1 paper
NM_005159.5
p.R198L
c.593G>T
1 paper
NM_005159.5
p.R198H
c.593G>A
4 papers
NM_005159.5
p.G199S
c.595G>A
4 papers
NM_005159.5
p.S201F
c.602C>T
1 paper
NM_005159.5
p.S201Y
c.602C>A
1 paper
NM_005159.5
p.R185L
c.554G>T
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