Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.V203F

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.V203F
c.607G>T
Surrounding Variants
4 papers
NM_005159.5
p.S201F
c.602C>T
1 paper
NM_005159.5
p.S201Y
c.602C>A
1 paper
NM_005159.5
p.T205S
c.613A>T
2 papers
NM_005159.5
p.A206Splc
c.616+1G>A
4 papers
NM_005159.5
p.G199S
c.595G>A
1 paper
NM_005159.5
p.R198L
c.593G>T
1 paper
NM_005159.5
p.R198H
c.593G>A
1 paper
NM_005159.5
p.E197G
c.590A>G
2 papers
NM_005159.5
p.K193N
c.579G>T
2 papers
NM_005159.5
p.K193N
c.579G>C
1 paper
NM_005159.5
p.L191F
c.571C>T
1 paper
NM_005159.5
p.Y190*
c.570C>G
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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."