Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.T162S

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.T162S
c.484A>T
Surrounding Variants
2 papers
NM_000487.6
p.T162S
c.485C>G
2 papers
NM_000487.6
p.L161P
c.482T>C
1 paper
NM_000487.6
p.C163S
c.487T>A
1 paper
NM_000487.6
p.L161L
c.481C>T
1 paper
NM_000487.6
p.C163S
c.488G>C
1 paper
NM_000487.6
p.N160N
c.480C>T
1 paper
NM_000487.6
p.C163W
c.489C>G
2 papers
NM_000487.6
p.F164L
c.490T>C
2 papers
NM_000487.6
p.Q159H
c.477G>T
1 paper
NM_000487.6
p.Q159_N160insFs
c.477_478insT
2 papers
NM_000487.6
p.Q159H
c.477G>C
2 papers
NM_000487.6
p.F164L
c.492C>G
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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."