Varaico: Literature-Extracted Genetic Variants

Gene:ARSA

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
1–12 of 1037 variants
60 papers
NM_000487.6
p.Q155_G156Splc
c.465+1G>A
35 papers
NM_000487.6
p.N352S
c.1055A>G
32 papers
NM_000487.6
p.P428L
c.1283C>T
30 papers
NM_000487.6
p.I181S
c.542T>G
19 papers
NM_000487.6
p.G311S
c.931G>A
18 papers
NM_000487.6
p.V179G
c.536T>G
16 papers
NM_000487.6
p.L444P
c.1331T>C
15 papers
NM_000487.6
p.R86Q
c.257G>A
15 papers
NM_000487.6
p.T276M
c.827C>T
14 papers
NM_000487.6
p.R86W
c.256C>T
14 papers
NM_000487.6
p.L300S
c.899T>C
13 papers
NM_000487.6
p.G101V
c.302G>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."