Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.N117S

ACTA1

391 papers

RefSeq Summary

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin is...

Pfam Domains

Actinaa 4–377UCSCActin

Gene Aliases

HGNC Name

actin alpha 1, skeletal muscle

HGNC Alias Symbol

NEM3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_001100.4
p.N117S
c.350A>G
Surrounding Variants
1 paper
NM_001100.4
p.N117I
c.350A>T
4 papers
NM_001100.4
p.N117T
c.350A>C
1 paper
NM_001100.4
p.N117N
c.351C>T
1 paper
NM_001100.4
p.N117fs
c.349_350fs
1 paper
NM_001100.4
p.N117delFs
c.350delT
1 paper
NM_001100.4
p.R118S
c.352C>A
8 papers
NM_001100.4
p.R118H
c.353G>A
8 papers
NM_001100.4
p.A116V
c.347C>T
4 papers
NM_001100.4
p.A116S
c.346G>T
3 papers
NM_001100.4
p.A116P
c.346G>C
7 papers
NM_001100.4
p.A116T
c.346G>A
1 paper
NM_001100.4
p.E119*
c.355G>T
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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."