Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.H277L

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.H277L
c.830A>T
Surrounding Variants
1 paper
NM_005159.5
p.G275_H277del3
c.823_830del9
1 paper
NM_005159.5
p.T280S
c.838A>T
1 paper
NM_005159.5
p.A274V
c.821C>T
1 paper
NM_005159.5
p.T280S
c.839C>G
1 paper
NM_005159.5
p.Y281H
c.841T>C
6 papers
NM_005159.5
p.S273F
c.818C>T
1 paper
NM_005159.5
p.Y281fs
c.841_842fs
1 paper
NM_005159.5
p.Y281delFs
c.843delG
1 paper
NM_005159.5
p.N282K
c.846T>G
1 paper
NM_005159.5
p.N282K
c.846T>A
1 paper
NM_005159.5
p.S283G
c.847A>G
1 paper
NM_005159.5
p.M271R
c.812T>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."