Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.P34R

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
2 papers
NM_005159.5
p.P34R
c.101C>G
Surrounding Variants
1 paper
NM_005159.5
p.F33S
c.98T>C
1 paper
NM_005159.5
p.V37L
c.109G>T
1 paper
NM_005159.5
p.V37L
c.109G>C
2 papers
NM_005159.5
p.V37A
c.110T>C
1 paper
NM_005159.5
p.A31V
c.92C>T
1 paper
NM_005159.5
p.A31P
c.91G>C
1 paper
NM_005159.5
p.A31T
c.91G>A
1 paper
NM_005159.5
p.P29P
c.87C>A
1 paper
NM_005159.5
p.R39fs
c.115_116fs
2 papers
NM_005159.5
p.R39H
c.116G>A
1 paper
NM_005159.5
p.P40fs
c.118_119fs
4 papers
NM_005159.5
p.A28V
c.83C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."