Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.M84V

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.M84V
c.250A>G
Surrounding Variants
9 papers
NM_005159.5
p.M84T
c.251T>C
3 papers
NM_005159.5
p.M84K
c.251T>A
1 paper
NM_005159.5
p.E85K
c.253G>A
1 paper
NM_005159.5
p.D83N
c.247G>A
1 paper
NM_005159.5
p.E85A
c.254A>C
1 paper
NM_005159.5
p.K86del1
c.256_257delCTT
1 paper
NM_005159.5
p.T79A
c.235A>G
17 papers
NM_005159.5
p.H90Y
c.268C>T
1 paper
NM_005159.5
p.I78F
c.232A>T
3 papers
NM_005159.5
p.P72_I77delFs
c.215_231del17
1 paper
NM_005159.5
p.H90Q
c.270C>G
1 paper
NM_005159.5
p.T91A
c.271A>G
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