Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1

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
1–12 of 444 variants
68 papers
NM_005159.5
p.E101K
c.301G>A
17 papers
NM_005159.5
p.D26N
c.76G>A
17 papers
NM_005159.5
p.H90Y
c.268C>T
16 papers
NM_005159.5
p.A297S
c.889G>T
15 papers
NM_005159.5
p.L10M
c.28C>A
14 papers
NM_005159.5
p.R314H
c.941G>A
12 papers
NM_005159.5
p.A21V
c.62C>T
11 papers
NM_005159.5
p.A323V
c.968C>T
11 papers
NM_005159.5
p.A333P
c.997G>C
10 papers
NM_005159.5
p.A232V
c.695C>T
10 papers
NM_005159.5
p.G247D
c.740G>A
9 papers
NM_005159.5
p.F23L
c.67T>C
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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."