Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.I181S

ARSA

496 papers

RefSeq Summary

The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which r...

Pfam Domains

Sulfataseaa 23–348UCSCSulfatase
Sulfatase_Caa 370–504UCSCC-terminal region of aryl-sulfatase

Gene Aliases

HGNC Name

arylsulfatase A

HGNC Alias Symbol

ASA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
30 papers
NM_000487.6
p.I181S
c.542T>G
Surrounding Variants
1 paper
NM_000487.6
p.I181N
c.542T>A
1 paper
NM_000487.6
p.I181insFs
c.542dupT
2 papers
NM_000487.6
p.P182S
c.544C>T
1 paper
NM_000487.6
p.P182L
c.545C>T
1 paper
NM_000487.6
p.P180L
c.539C>T
4 papers
NM_000487.6
p.P182R
c.545C>G
1 paper
NM_000487.6
p.P180R
c.539C>G
2 papers
NM_000487.6
p.P180H
c.539C>A
1 paper
NM_000487.6
p.P180S
c.538C>T
18 papers
NM_000487.6
p.V179G
c.536T>G
1 paper
NM_000487.6
p.L183R
c.548T>G
2 papers
NM_000487.6
p.L183Q
c.548T>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."