Varaico: Literature-Extracted Genetic Variants

Gene:ASPRV1
Variant:p.D150H

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
1 paper
NM_152792.4
p.D150H
c.448G>C
Surrounding Variants
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
1 paper
NM_152792.4
p.N157T
c.470A>C
1 paper
NM_152792.4
p.V161insFs
c.481_482insTC
1 paper
NM_152792.4
p.V161ins1
c.482_483insGTT
1 paper
NM_152792.4
p.A162_N163delFs
c.484_488del5
1 paper
NM_152792.4
p.E166Q
c.496G>C
1 paper
NM_152792.4
p.A176S
c.526G>T
1 paper
NM_152792.4
p.S107S
c.321C>T
1 paper
NM_152792.4
p.I199V
c.595A>G
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