Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7A
Variant:p.E181D

ACTL7A

62 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an acti...

Pfam Domains

ACTL7A_Naa 1–65UCSCActin-like protein 7A N-terminus
Actinaa 66–435UCSCActin

Gene Aliases

HGNC Name

actin like 7A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006687.4
p.E181D
c.543G>C
Surrounding Variants
1 paper
NM_006687.4
p.E181D
c.543G>T
4 papers
NM_006687.4
p.Y183H
c.547T>C
1 paper
NM_006687.4
p.E185K
c.553G>A
1 paper
NM_006687.4
p.E185D
c.555A>C
1 paper
NM_006687.4
p.E185D
c.555A>T
1 paper
NM_006687.4
p.L187M
c.559C>A
1 paper
NM_006687.4
p.D171A
c.512A>C
1 paper
NM_006687.4
p.A195delFs
c.585delA
1 paper
NM_006687.4
p.A166A
c.498G>A
1 paper
NM_006687.4
p.A166V
c.497C>T
1 paper
NM_006687.4
p.Q201_S202insFs
c.603_604insG
1 paper
NM_006687.4
p.A161T
c.481G>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."