Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.V37L

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.V37L
c.109G>C
Surrounding Variants
1 paper
NM_005159.5
p.V37L
c.109G>T
2 papers
NM_005159.5
p.V37A
c.110T>C
1 paper
NM_005159.5
p.R39fs
c.115_116fs
2 papers
NM_005159.5
p.R39H
c.116G>A
2 papers
NM_005159.5
p.P34R
c.101C>G
1 paper
NM_005159.5
p.P40fs
c.118_119fs
1 paper
NM_005159.5
p.P40L
c.119C>T
1 paper
NM_005159.5
p.F33S
c.98T>C
1 paper
NM_005159.5
p.R41W
c.121C>T
1 paper
NM_005159.5
p.R39_R41Fs
c.116_121delinsAFs
2 papers
NM_005159.5
p.H42Y
c.124C>T
1 paper
NM_005159.5
p.H42N
c.124C>A
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