Varaico: Literature-Extracted Genetic Variants

Gene:ASPRV1
Variant:p.G3A

ASPRV1

35 papers

RefSeq Summary

Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin process...

Gene Aliases

HGNC Name

aspartic peptidase retroviral like 1

HGNC Alias Symbols

Taps; SASPase; FLJ25084

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152792.4
p.G3A
c.8G>C
Surrounding Variants
8 papers
NM_152792.4
p.F17I
c.49T>A
1 paper
NM_152792.4
p.L31L
c.93C>A
10 papers
NM_152792.4
p.T49A
c.145A>G
2 papers
NM_152792.4
p.A87T
c.259G>A
1 paper
NM_152792.4
p.G89fs
c.265_266fs
1 paper
NM_152792.4
p.V90I
c.268G>A
1 paper
NM_152792.4
p.S107S
c.321C>T
1 paper
NM_152792.4
p.D150H
c.448G>C
1 paper
NM_152792.4
p.D150A
c.449A>C
1 paper
NM_152792.4
p.D150E
c.450C>G
1 paper
NM_152792.4
p.D150E
c.450C>A
1 paper
NM_152792.4
p.Q153_P154insFs
c.459_460insTA
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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."