Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.P266P

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.P266P
c.798C>T
Surrounding Variants
3 papers
NM_005159.5
p.P266L
c.797C>T
1 paper
NM_005159.5
p.P266S
c.796C>T
1 paper
NM_005159.5
p.F268L
c.802T>C
1 paper
NM_005159.5
p.Q265L
c.794A>T
6 papers
NM_005159.5
p.Q265E
c.793C>G
1 paper
NM_005159.5
p.F268L
c.804C>G
1 paper
NM_005159.5
p.F268L
c.804C>A
8 papers
NM_005159.5
p.I269T
c.806T>C
2 papers
NM_005159.5
p.L263V
c.787C>G
1 paper
NM_005159.5
p.G270Splc
c.808+2T>C
1 paper
NM_005159.5
p.G270Splc
c.808+3G>A
1 paper
NM_005159.5
p.T262S
c.784A>T
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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."