Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.Q478*

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
1 paper
NM_000487.6
p.Q478*
c.1432C>T
Surrounding Variants
2 papers
NM_000487.6
p.Q478H
c.1434G>T
2 papers
NM_000487.6
p.Q478H
c.1434G>C
2 papers
NM_000487.6
p.V479M
c.1435G>A
1 paper
NM_000487.6
p.S477fs
c.1429_1430fs
2 papers
NM_000487.6
p.S477C
c.1429A>T
2 papers
NM_000487.6
p.P476_S477insFs
c.1428_1429insC
1 paper
NM_000487.6
p.P476P
c.1428C>A
2 papers
NM_000487.6
p.A480T
c.1438G>A
2 papers
NM_000487.6
p.A480V
c.1439C>T
2 papers
NM_000487.6
p.G475G
c.1425C>A
2 papers
NM_000487.6
p.G475S
c.1423G>A
2 papers
NM_000487.6
p.R481W
c.1441C>T
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