Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.P150R

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
5 papers
NM_000487.6
p.P150R
c.449C>G
Surrounding Variants
10 papers
NM_000487.6
p.P150L
c.449C>T
1 paper
NM_000487.6
p.P150delFs
c.449delG
1 paper
NM_000487.6
p.P150S
c.448C>T
1 paper
NM_000487.6
p.I149M
c.447C>G
1 paper
NM_000487.6
p.Y151fs
c.451_452fs
2 papers
NM_000487.6
p.I149T
c.446T>C
1 paper
NM_000487.6
p.Y151insFs
c.451dupT
2 papers
NM_000487.6
p.Y151*
c.453C>G
1 paper
NM_000487.6
p.Y151*
c.453C>A
1 paper
NM_000487.6
p.I149L
c.445A>C
3 papers
NM_000487.6
p.I149insFs
c.445_446insT
2 papers
NM_000487.6
p.S152T
c.454T>A
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