Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.G15R

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.G15R
c.43G>C
Surrounding Variants
1 paper
NM_005159.5
p.N14N
c.42C>T
2 papers
NM_005159.5
p.V11L
c.31G>T
2 papers
NM_005159.5
p.V11L
c.31G>C
1 paper
NM_005159.5
p.V19insFs
c.56_57insCA
2 papers
NM_005159.5
p.V19fs
c.55_56fs
2 papers
NM_005159.5
p.V19_K20insFs
c.57_58insCA
1 paper
NM_005159.5
p.L10insFs
c.28_29insA
15 papers
NM_005159.5
p.L10M
c.28C>A
1 paper
NM_005159.5
p.K20fs
c.58_59fs
2 papers
NM_005159.5
p.T8insFs
c.23dupC
12 papers
NM_005159.5
p.A21V
c.62C>T
1 paper
NM_005159.5
p.T7insFs
c.20_21insT
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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."