Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.M357V

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.M357V
c.1069A>G
Surrounding Variants
1 paper
NM_005159.5
p.M357I
c.1071G>T
1 paper
NM_005159.5
p.M357I
c.1071G>C
1 paper
NM_005159.5
p.M357I
c.1071G>A
1 paper
NM_005159.5
p.W358C
c.1074G>T
1 paper
NM_005159.5
p.W358C
c.1074G>C
1 paper
NM_005159.5
p.Q355R
c.1064A>G
2 papers
NM_005159.5
p.S360T
c.1079G>C
1 paper
NM_005159.5
p.L351L
c.1053G>A
9 papers
NM_005159.5
p.E363G
c.1088A>G
1 paper
NM_005159.5
p.Y364N
c.1090T>A
1 paper
NM_005159.5
p.Y364Y
c.1092C>T
1 paper
NM_005159.5
p.A349P
c.1045G>C
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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."