Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.I167S

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.I167S
c.500T>G
Surrounding Variants
4 papers
NM_005159.5
p.I167T
c.500T>C
1 paper
NM_005159.5
p.I167I
c.501C>A
1 paper
NM_005159.5
p.Y168N
c.502T>A
7 papers
NM_005159.5
p.Y168C
c.503A>G
2 papers
NM_005159.5
p.P166S
c.496C>T
7 papers
NM_005159.5
p.P166A
c.496C>G
2 papers
NM_005159.5
p.V165I
c.493G>A
1 paper
NM_005159.5
p.G170D
c.509G>A
1 paper
NM_005159.5
p.Y171insFs
c.512_513insGC
2 papers
NM_005159.5
p.Y171Y
c.513C>T
1 paper
NM_005159.5
p.H163Y
c.487C>T
1 paper
NM_005159.5
p.Y171_A172insFs
c.513_514ins4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."