Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.P166T

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
1 paper
NM_000487.6
p.P166T
c.496C>A
Surrounding Variants
2 papers
NM_000487.6
p.P166L
c.497C>T
2 papers
NM_000487.6
p.C163_P165delFs
c.489_495del7
2 papers
NM_000487.6
p.A167S
c.499G>T
2 papers
NM_000487.6
p.A167V
c.500C>T
2 papers
NM_000487.6
p.F164L
c.492C>G
2 papers
NM_000487.6
p.F164L
c.492C>A
1 paper
NM_000487.6
p.A167A
c.501C>A
2 papers
NM_000487.6
p.F164L
c.490T>C
4 papers
NM_000487.6
p.P165_A167delFs
c.495_501del7
1 paper
NM_000487.6
p.C163W
c.489C>G
1 paper
NM_000487.6
p.C163S
c.488G>C
1 paper
NM_000487.6
p.C163S
c.487T>A
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