Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.E253V

ACTG1

657 papers

RefSeq Summary

Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate ...

Pfam Domains

Actinaa 2–375UCSCActin

Gene Aliases

HGNC Name

actin gamma 1

HGNC Previous Symbols

DFNA20; DFNA26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001614.5
p.E253V
c.758A>T
Surrounding Variants
3 papers
NM_001614.5
p.E253K
c.757G>A
14 papers
NM_001614.5
p.R254W
c.760C>T
1 paper
NM_001614.5
p.N252I
c.755A>T
2 papers
NM_001614.5
p.G251D
c.752G>A
17 papers
NM_001614.5
p.R256W
c.766C>T
3 papers
NM_001614.5
p.R256Q
c.767G>A
3 papers
NM_001614.5
p.C257Y
c.770G>A
7 papers
NM_001614.5
p.P258L
c.773C>T
5 papers
NM_001614.5
p.E259V
c.776A>T
1 paper
NM_001614.5
p.Q246L
c.737A>T
2 papers
NM_001614.5
p.Q246R
c.737A>G
2 papers
NM_001614.5
p.Q246K
c.736C>A
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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."