Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.N117T

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.N117T
c.350A>C
Surrounding Variants
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.A116V
c.347C>T
1 paper
NM_005159.5
p.A116T
c.346G>A
4 papers
NM_005159.5
p.E119Q
c.355G>C
5 papers
NM_005159.5
p.M121V
c.361A>G
1 paper
NM_005159.5
p.K120del1
c.358_359delCTT
1 paper
NM_005159.5
p.L112Q
c.335T>A
1 paper
NM_005159.5
p.P111P
c.333G>A
1 paper
NM_005159.5
p.P111L
c.332C>T
1 paper
NM_005159.5
p.A110A
c.330C>A
1 paper
NM_005159.5
p.I124V
c.370A>G
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