Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.F257L

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.F257L
c.769T>C
Surrounding Variants
1 paper
NM_005159.5
p.R256R
c.768C>T
3 papers
NM_005159.5
p.R256H
c.767G>A
1 paper
NM_005159.5
p.F257L
c.771C>G
1 paper
NM_005159.5
p.F257L
c.771C>A
1 paper
NM_005159.5
p.R258L
c.773G>T
2 papers
NM_005159.5
p.R258H
c.773G>A
1 paper
NM_005159.5
p.N254K
c.762T>G
1 paper
NM_005159.5
p.N254K
c.762T>A
1 paper
NM_005159.5
p.C259Y
c.776G>A
1 paper
NM_005159.5
p.F257_C259del3
c.769_776del9
1 paper
NM_005159.5
p.G253D
c.758G>A
1 paper
NM_005159.5
p.E261K
c.781G>A
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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."