Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.A201S

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
2 papers
NM_000487.6
p.A201S
c.601G>T
Surrounding Variants
1 paper
NM_000487.6
p.G198_E200delFs
c.594_600del7
3 papers
NM_000487.6
p.A201V
c.602C>T
3 papers
NM_000487.6
p.E200K
c.598G>A
3 papers
NM_000487.6
p.R202C
c.604C>T
2 papers
NM_000487.6
p.R202H
c.605G>A
1 paper
NM_000487.6
p.R202R
c.606C>T
3 papers
NM_000487.6
p.Y203H
c.607T>C
1 paper
NM_000487.6
p.Y203N
c.607T>A
2 papers
NM_000487.6
p.L199L
c.595C>T
4 papers
NM_000487.6
p.Y203C
c.608A>G
1 paper
NM_000487.6
p.L199_Y203delFs
c.595_607del13
2 papers
NM_000487.6
p.G198R
c.592G>C
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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."