Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.H42N

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.H42N
c.124C>A
Surrounding Variants
2 papers
NM_005159.5
p.H42Y
c.124C>T
1 paper
NM_005159.5
p.R41W
c.121C>T
1 paper
NM_005159.5
p.R39_R41Fs
c.116_121delinsAFs
1 paper
NM_005159.5
p.Q43R
c.128A>G
1 paper
NM_005159.5
p.P40_H42del3
c.118_125del9
1 paper
NM_005159.5
p.P40L
c.119C>T
1 paper
NM_005159.5
p.P40fs
c.118_119fs
2 papers
NM_005159.5
p.R39H
c.116G>A
1 paper
NM_005159.5
p.R39fs
c.115_116fs
2 papers
NM_005159.5
p.V37A
c.110T>C
1 paper
NM_005159.5
p.V37L
c.109G>T
1 paper
NM_005159.5
p.V37L
c.109G>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."