Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.D283Y

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.D283Y
c.847G>T
Surrounding Variants
5 papers
NM_000487.6
p.D283N
c.847G>A
1 paper
NM_000487.6
p.T281_A282del2
c.841_845del6
4 papers
NM_000487.6
p.D283E
c.849C>G
4 papers
NM_000487.6
p.D283E
c.849C>A
1 paper
NM_000487.6
p.A282T
c.844G>A
5 papers
NM_000487.6
p.N284S
c.851A>G
2 papers
NM_000487.6
p.N284K
c.852T>G
3 papers
NM_000487.6
p.N284K
c.852T>A
4 papers
NM_000487.6
p.T281I
c.842C>T
1 paper
NM_000487.6
p.G285R
c.853G>A
1 paper
NM_000487.6
p.G285Splc
c.854+1G>T
2 papers
NM_000487.6
p.G285Splc
c.854+1G>A
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