Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.L455M

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.L455M
c.1363C>A
Surrounding Variants
2 papers
NM_000487.6
p.L455P
c.1364T>C
1 paper
NM_000487.6
p.L455L
c.1365G>A
1 paper
NM_000487.6
p.Q456*
c.1366C>T
2 papers
NM_000487.6
p.A457T
c.1369G>A
2 papers
NM_000487.6
p.P452L
c.1355C>T
2 papers
NM_000487.6
p.K459E
c.1375A>G
2 papers
NM_000487.6
p.K459R
c.1376A>G
1 paper
NM_000487.6
p.K459K
c.1377A>G
1 paper
NM_000487.6
p.Q460*
c.1378C>T
2 papers
NM_000487.6
p.Q460E
c.1378C>G
1 paper
NM_000487.6
p.G449fs
c.1345_1346fs
7 papers
NM_000487.6
p.A448insFs
c.1344dupC
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