Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.A323V

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
11 papers
NM_005159.5
p.A323V
c.968C>T
Surrounding Variants
1 paper
NM_005159.5
p.A323S
c.967G>T
1 paper
NM_005159.5
p.A323P
c.967G>C
1 paper
NM_005159.5
p.P324S
c.970C>T
1 paper
NM_005159.5
p.S325N
c.974G>A
1 paper
NM_005159.5
p.A321V
c.962C>T
1 paper
NM_005159.5
p.K328N
c.984G>T
1 paper
NM_005159.5
p.K328N
c.984G>C
1 paper
NM_005159.5
p.E318K
c.952G>A
1 paper
NM_005159.5
p.I329V
c.985A>G
7 papers
NM_005159.5
p.I329T
c.986T>C
2 papers
NM_005159.5
p.I329N
c.986T>A
1 paper
NM_005159.5
p.M315K
c.944T>A
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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."