Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.R290S

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.R290S
c.868C>A
Surrounding Variants
6 papers
NM_000487.6
p.R290C
c.868C>T
8 papers
NM_000487.6
p.R290H
c.869G>A
2 papers
NM_000487.6
p.M289T
c.866T>C
1 paper
NM_000487.6
p.T288I
c.863C>T
3 papers
NM_000487.6
p.T288N
c.863C>A
2 papers
NM_000487.6
p.S292fs
c.874_875fs
5 papers
NM_000487.6
p.T288P
c.862A>C
1 paper
NM_000487.6
p.E287insFs
c.861dupG
2 papers
NM_000487.6
p.S292F
c.875C>T
1 paper
NM_000487.6
p.S292S
c.876C>T
2 papers
NM_000487.6
p.E287Q
c.859G>C
4 papers
NM_000487.6
p.R293*
c.877C>T
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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."