Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.W320*

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
9 papers
NM_000487.6
p.W320*
c.960G>A
Surrounding Variants
3 papers
NM_000487.6
p.W320C
c.960G>T
2 papers
NM_000487.6
p.W320C
c.960G>C
5 papers
NM_000487.6
p.W320*
c.959G>A
1 paper
NM_000487.6
p.A318_F319del1
c.954_956delAAG
2 papers
NM_000487.6
p.W320G
c.958T>G
1 paper
NM_000487.6
p.F319_P321delFs
c.955_962del8
2 papers
NM_000487.6
p.F319C
c.956T>G
1 paper
NM_000487.6
p.G322C
c.964G>T
1 paper
NM_000487.6
p.A318Fs
c.954delinsGCFs
1 paper
NM_000487.6
p.H323N
c.967C>A
2 papers
NM_000487.6
p.L317F
c.951G>T
2 papers
NM_000487.6
p.L317F
c.951G>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."