Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.E133K

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.E133K
c.397G>A
Surrounding Variants
1 paper
NM_000487.6
p.G131R
c.391G>A
2 papers
NM_000487.6
p.A135D
c.404C>A
2 papers
NM_000487.6
p.G129G
c.387G>A
1 paper
NM_000487.6
p.G129A
c.386G>C
2 papers
NM_000487.6
p.G129R
c.385G>C
2 papers
NM_000487.6
p.G129R
c.385G>A
1 paper
NM_000487.6
p.L137L
c.409C>T
1 paper
NM_000487.6
p.F136del1
c.406_408delGAA
1 paper
NM_000487.6
p.L137P
c.410T>C
1 paper
NM_000487.6
p.E133_L137del0
c.398_409del12
3 papers
NM_000487.6
p.L128R
c.383T>G
2 papers
NM_000487.6
p.L128P
c.383T>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."