Varaico: Literature-Extracted Genetic Variants

Gene:ACTL7A
Variant:p.M321V

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.M321V
c.961A>G
Surrounding Variants
1 paper
NM_006687.4
p.S326C
c.977C>G
1 paper
NM_006687.4
p.I328T
c.983T>C
1 paper
NM_006687.4
p.L333P
c.998T>C
1 paper
NM_006687.4
p.L335_H336del2
c.1003_1007del6
1 paper
NM_006687.4
p.H336insFs
c.1006_1007insTA
1 paper
NM_006687.4
p.V302M
c.904G>A
1 paper
NM_006687.4
p.V340M
c.1018G>A
3 papers
NM_006687.4
p.L343V
c.1027C>G
1 paper
NM_006687.4
p.E288del1
c.862_864delGAG
1 paper
NM_006687.4
p.N357insFs
c.1069_1070insAC
1 paper
NM_006687.4
p.G363insFs
c.1088dupG
7 papers
NM_006687.4
p.G362R
c.1084G>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."