Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7A

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
1–12 of 98 variants
9 papers
NM_006687.4
p.G214S
c.640G>A
8 papers
NM_006687.4
p.A245T
c.733G>A
7 papers
NM_006687.4
p.R155*
c.463C>T
7 papers
NM_006687.4
p.G362R
c.1084G>A
5 papers
NM_006687.4
p.G362R
c.1084G>C
4 papers
NM_006687.4
p.Y183H
c.547T>C
3 papers
NM_006687.4
p.K82I
c.245A>T
3 papers
NM_006687.4
p.R136*
c.406C>T
3 papers
NM_006687.4
p.L343V
c.1027C>G
3 papers
NM_006687.4
p.R373H
c.1118G>A
2 papers
NM_006687.4
p.R45C
c.133C>T
2 papers
NM_006687.4
p.A260V
c.779C>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."