Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.S152T

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.S152T
c.454T>A
Surrounding Variants
1 paper
NM_000487.6
p.S152F
c.455C>T
2 papers
NM_000487.6
p.Y151*
c.453C>G
1 paper
NM_000487.6
p.Y151*
c.453C>A
1 paper
NM_000487.6
p.Y151insFs
c.451dupT
1 paper
NM_000487.6
p.H153Y
c.457C>T
1 paper
NM_000487.6
p.Y151fs
c.451_452fs
1 paper
NM_000487.6
p.P150delFs
c.449delG
10 papers
NM_000487.6
p.P150L
c.449C>T
3 papers
NM_000487.6
p.H153H
c.459C>T
5 papers
NM_000487.6
p.P150R
c.449C>G
1 paper
NM_000487.6
p.D154Y
c.460G>T
2 papers
NM_000487.6
p.D154H
c.460G>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."