Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.E483K

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
4 papers
NM_000487.6
p.E483K
c.1447G>A
Surrounding Variants
1 paper
NM_000487.6
p.E483*
c.1447G>T
1 paper
NM_000487.6
p.G482G
c.1446C>T
2 papers
NM_000487.6
p.G482D
c.1445G>A
2 papers
NM_000487.6
p.D484H
c.1450G>C
2 papers
NM_000487.6
p.G482S
c.1444G>A
3 papers
NM_000487.6
p.R481Q
c.1442G>A
1 paper
NM_000487.6
p.D484D
c.1452C>T
2 papers
NM_000487.6
p.P485S
c.1453C>T
2 papers
NM_000487.6
p.R481W
c.1441C>T
1 paper
NM_000487.6
p.P485L
c.1454C>T
2 papers
NM_000487.6
p.A480V
c.1439C>T
1 paper
NM_000487.6
p.A486S
c.1456G>T
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