Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.H228_H229Splc

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.H228_H229Splc
c.685-1G>A
Surrounding Variants
2 papers
NM_000487.6
p.H229Y
c.685C>T
1 paper
NM_000487.6
p.H229D
c.685C>G
2 papers
NM_000487.6
p.H228_H229Splc
c.685-2A>G
1 paper
NM_000487.6
p.H229L
c.686A>T
1 paper
NM_000487.6
p.H228_H229Splc
c.685-7C>T
1 paper
NM_000487.6
p.H228_H229Splc
c.685-8G>A
3 papers
NM_000487.6
p.H231Q
c.693C>G
3 papers
NM_000487.6
p.H231Q
c.693C>A
2 papers
NM_000487.6
p.P233A
c.697C>G
1 paper
NM_000487.6
p.P233T
c.697C>A
2 papers
NM_000487.6
p.Q234*
c.700C>T
1 paper
NM_000487.6
p.Y232_P233del0
c.694_699del6
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