Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.K70T

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
5 papers
NM_005159.5
p.K70T
c.209A>C
Surrounding Variants
1 paper
NM_005159.5
p.Y71*
c.213T>G
1 paper
NM_005159.5
p.Y71*
c.213T>A
1 paper
NM_005159.5
p.P72fs
c.214_215fs
3 papers
NM_005159.5
p.T68I
c.203C>T
1 paper
NM_005159.5
p.P72R
c.215C>G
3 papers
NM_005159.5
p.T68N
c.203C>A
1 paper
NM_005159.5
p.P72fs
c.214_215fs
3 papers
NM_005159.5
p.I73V
c.217A>G
1 paper
NM_005159.5
p.I73I
c.219C>T
1 paper
NM_005159.5
p.E74K
c.220G>A
3 papers
NM_005159.5
p.G65D
c.194G>A
1 paper
NM_005159.5
p.H75L
c.224A>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."