Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.A110V

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
6 papers
NM_005159.5
p.A110V
c.329C>T
Surrounding Variants
2 papers
NM_005159.5
p.A110T
c.328G>A
1 paper
NM_005159.5
p.A110A
c.330C>A
1 paper
NM_005159.5
p.E109D
c.327G>C
1 paper
NM_005159.5
p.P111L
c.332C>T
1 paper
NM_005159.5
p.P111P
c.333G>A
1 paper
NM_005159.5
p.E109K
c.325G>A
1 paper
NM_005159.5
p.L112Q
c.335T>A
1 paper
NM_005159.5
p.T108I
c.323C>T
1 paper
NM_005159.5
p.T105N
c.314C>A
1 paper
NM_005159.5
p.T105fs
c.313_314fs
1 paper
NM_005159.5
p.P104insFs
c.310_311insC
1 paper
NM_005159.5
p.P104delFs
c.312delG
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