Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.Y339N

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.Y339N
c.1015T>A
Surrounding Variants
1 paper
NM_005159.5
p.Y339C
c.1016A>G
1 paper
NM_005159.5
p.K338I
c.1013A>T
1 paper
NM_005159.5
p.S340T
c.1018T>A
1 paper
NM_005159.5
p.K338E
c.1012A>G
2 papers
NM_005159.5
p.S340F
c.1019C>T
1 paper
NM_005159.5
p.I331_E336delFs
c.992_1008del17
1 paper
NM_005159.5
p.E336A
c.1007A>C
1 paper
NM_005159.5
p.K338_V341del0
c.1012_1023del12
1 paper
NM_005159.5
p.I343delFs
c.1029delA
3 papers
NM_005159.5
p.A333V
c.998C>T
2 papers
NM_005159.5
p.A333S
c.997G>T
11 papers
NM_005159.5
p.A333P
c.997G>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."