Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.T91A

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.T91A
c.271A>G
Surrounding Variants
1 paper
NM_005159.5
p.H90Q
c.270C>G
1 paper
NM_005159.5
p.T91insFs
c.271dupA
1 paper
NM_005159.5
p.T91N
c.272C>A
17 papers
NM_005159.5
p.H90Y
c.268C>T
1 paper
NM_005159.5
p.F92Y
c.275T>A
2 papers
NM_005159.5
p.Y93H
c.277T>C
3 papers
NM_005159.5
p.Y93C
c.278A>G
2 papers
NM_005159.5
p.F92del1
c.274_275delGAA
1 paper
NM_005159.5
p.N94H
c.280A>C
1 paper
NM_005159.5
p.N94I
c.281A>T
7 papers
NM_005159.5
p.N94S
c.281A>G
1 paper
NM_005159.5
p.K86del1
c.256_257delCTT
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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."