Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.S252P

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.S252P
c.754T>C
Surrounding Variants
2 papers
NM_000487.6
p.S252Y
c.755C>A
1 paper
NM_000487.6
p.D251V
c.752A>T
3 papers
NM_000487.6
p.D251insFs
c.752_753insT
2 papers
NM_000487.6
p.L253V
c.757C>G
1 paper
NM_000487.6
p.G250insFs
c.749_750ins8
3 papers
NM_000487.6
p.L253insFs
c.758_759insT
1 paper
NM_000487.6
p.G250R
c.748G>A
2 papers
NM_000487.6
p.M254T
c.761T>C
1 paper
NM_000487.6
p.F249C
c.746T>G
5 papers
NM_000487.6
p.F249S
c.746T>C
1 paper
NM_000487.6
p.F249Y
c.746T>A
1 paper
NM_000487.6
p.R246_P248insFs
c.737_744dup8
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