Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.N352S

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
35 papers
NM_000487.6
p.N352S
c.1055A>G
Surrounding Variants
2 papers
NM_000487.6
p.N352H
c.1054A>C
1 paper
NM_000487.6
p.V353D
c.1058T>A
1 paper
NM_000487.6
p.P351A
c.1051C>G
2 papers
NM_000487.6
p.T354S
c.1060A>T
2 papers
NM_000487.6
p.L350Q
c.1049T>A
2 papers
NM_000487.6
p.T354S
c.1061C>G
1 paper
NM_000487.6
p.L355L
c.1063T>C
1 paper
NM_000487.6
p.P349fs
c.1045_1046fs
2 papers
NM_000487.6
p.P349delFs
c.1046delG
1 paper
NM_000487.6
p.P349S
c.1045C>T
3 papers
NM_000487.6
p.D356V
c.1067A>T
1 paper
NM_000487.6
p.A348S
c.1042G>T
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