Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.G57delFs

ACTA2

372 papers

RefSeq Summary

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein i...

Pfam Domains

Actinaa 4–43UCSCActin
Actinaa 4–377UCSCActin

Gene Aliases

HGNC Name

actin alpha 2, smooth muscle

HGNC Alias Symbol

ACTSA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001613.4
p.G57delFs
c.170delC
Surrounding Variants
1 paper
NM_001613.4
p.G57fs
c.169_170fs
1 paper
NM_001613.4
p.G57S
c.169G>A
1 paper
NM_001613.4
p.D58G
c.173A>G
1 paper
NM_001613.4
p.E59K
c.175G>A
1 paper
NM_001613.4
p.Y55*
c.165C>G
1 paper
NM_001613.4
p.Y55*
c.165C>A
1 paper
NM_001613.4
p.Y55C
c.164A>G
1 paper
NM_001613.4
p.S54delFs
c.161_162delGC
1 paper
NM_001613.4
p.S54del1
c.160_161delGCT
1 paper
NM_001613.4
p.A60E
c.179C>A
1 paper
NM_001613.4
p.K52_S54delins
c.155_162delinsGCACA
1 paper
NM_001613.4
p.Q61L
c.182A>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."