Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.V98A

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.V98A
c.293T>C
Surrounding Variants
1 paper
NM_005159.5
p.A99T
c.295G>A
2 papers
NM_005159.5
p.R97L
c.290G>T
1 paper
NM_005159.5
p.R97H
c.290G>A
7 papers
NM_005159.5
p.R97C
c.289C>T
1 paper
NM_005159.5
p.L96P
c.287T>C
1 paper
NM_005159.5
p.P100L
c.299C>T
1 paper
NM_005159.5
p.L96F
c.286C>T
1 paper
NM_005159.5
p.E95D
c.285G>T
1 paper
NM_005159.5
p.E95D
c.285G>C
68 papers
NM_005159.5
p.E101K
c.301G>A
1 paper
NM_005159.5
p.E101V
c.302A>T
1 paper
NM_005159.5
p.N94I
c.281A>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."