Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.E318K

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.E318K
c.952G>A
Surrounding Variants
1 paper
NM_005159.5
p.M315K
c.944T>A
1 paper
NM_005159.5
p.A321V
c.962C>T
14 papers
NM_005159.5
p.R314H
c.941G>A
8 papers
NM_005159.5
p.R314C
c.940C>T
1 paper
NM_005159.5
p.A323S
c.967G>T
8 papers
NM_005159.5
p.D313H
c.937G>C
1 paper
NM_005159.5
p.A323P
c.967G>C
11 papers
NM_005159.5
p.A323V
c.968C>T
1 paper
NM_005159.5
p.P324S
c.970C>T
1 paper
NM_005159.5
p.I311V
c.931A>G
1 paper
NM_005159.5
p.S325N
c.974G>A
1 paper
NM_005159.5
p.G310_I311insC
c.928_932ins3
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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."