Varaico: Literature-Extracted Genetic Variants

Gene:ASPRV1
Variant:p.A198_I199delFs

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.A198_I199delFs
c.594_595delTG
Surrounding Variants
1 paper
NM_152792.4
p.I199V
c.595A>G
1 paper
NM_152792.4
p.I200T
c.599T>C
1 paper
NM_152792.4
p.D203_V204ins4
c.609_610ins12
1 paper
NM_152792.4
p.V204Fs
c.610_611delinsGAACCTCATTGGCCCTCAAGGGFs
1 paper
NM_152792.4
p.V204insFs
c.611_612ins8
1 paper
NM_152792.4
p.L221R
c.662T>G
1 paper
NM_152792.4
p.A176S
c.526G>T
1 paper
NM_152792.4
p.E166Q
c.496G>C
1 paper
NM_152792.4
p.S234A
c.700T>G
1 paper
NM_152792.4
p.A162_N163delFs
c.484_488del5
1 paper
NM_152792.4
p.V161ins1
c.482_483insGTT
1 paper
NM_152792.4
p.V161insFs
c.481_482insTC
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