Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.S241R

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.S241R
c.723C>G
Surrounding Variants
2 papers
NM_005159.5
p.S241R
c.723C>A
2 papers
NM_005159.5
p.Y242C
c.725A>G
1 paper
NM_005159.5
p.S241G
c.721A>G
2 papers
NM_005159.5
p.S241R
c.721A>C
1 paper
NM_005159.5
p.E243K
c.727G>A
1 paper
NM_005159.5
p.E243fs
c.727_728fs
1 paper
NM_005159.5
p.E239D
c.717G>T
1 paper
NM_005159.5
p.E239D
c.717G>C
2 papers
NM_005159.5
p.S237F
c.710C>T
1 paper
NM_005159.5
p.G247S
c.739G>A
4 papers
NM_005159.5
p.S236F
c.707C>T
1 paper
NM_005159.5
p.G247A
c.740G>C
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