Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.E101K

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
68 papers
NM_005159.5
p.E101K
c.301G>A
Surrounding Variants
1 paper
NM_005159.5
p.E101V
c.302A>T
1 paper
NM_005159.5
p.P100L
c.299C>T
1 paper
NM_005159.5
p.E102G
c.305A>G
1 paper
NM_005159.5
p.A99T
c.295G>A
2 papers
NM_005159.5
p.V98A
c.293T>C
5 papers
NM_005159.5
p.H103Q
c.309C>G
7 papers
NM_005159.5
p.H103Q
c.309C>A
1 paper
NM_005159.5
p.P104S
c.310C>T
1 paper
NM_005159.5
p.H103_P104insFs
c.309_310insCT
1 paper
NM_005159.5
p.H103_P104ins1
c.309_310insCCT
2 papers
NM_005159.5
p.R97L
c.290G>T
1 paper
NM_005159.5
p.R97H
c.290G>A
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