Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.R86W

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
14 papers
NM_000487.6
p.R86W
c.256C>T
Surrounding Variants
2 papers
NM_000487.6
p.R86G
c.256C>G
2 papers
NM_000487.6
p.R86L
c.257G>T
15 papers
NM_000487.6
p.R86Q
c.257G>A
2 papers
NM_000487.6
p.V85I
c.253G>A
10 papers
NM_000487.6
p.P84L
c.251C>T
3 papers
NM_000487.6
p.P84Q
c.251C>A
1 paper
NM_000487.6
p.G88S
c.262G>A
5 papers
NM_000487.6
p.P84S
c.250C>T
1 paper
NM_000487.6
p.P84A
c.250C>G
1 paper
NM_000487.6
p.G88D
c.263G>A
1 paper
NM_000487.6
p.L83L
c.249C>A
2 papers
NM_000487.6
p.L83P
c.248T>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."