Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.M121V

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
5 papers
NM_005159.5
p.M121V
c.361A>G
Surrounding Variants
1 paper
NM_005159.5
p.K120del1
c.358_359delCTT
4 papers
NM_005159.5
p.E119Q
c.355G>C
1 paper
NM_005159.5
p.I124V
c.370A>G
4 papers
NM_005159.5
p.I124M
c.372C>G
1 paper
NM_005159.5
p.N117I
c.350A>T
1 paper
NM_005159.5
p.N117S
c.350A>G
1 paper
NM_005159.5
p.N117T
c.350A>C
6 papers
NM_005159.5
p.M125V
c.373A>G
1 paper
NM_005159.5
p.A116V
c.347C>T
1 paper
NM_005159.5
p.A116T
c.346G>A
4 papers
NM_005159.5
p.T128A
c.382A>G
4 papers
NM_005159.5
p.T128I
c.383C>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."