Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.C491G

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
4 papers
NM_000487.6
p.C491G
c.1471T>G
Surrounding Variants
1 paper
NM_000487.6
p.C491F
c.1472G>T
6 papers
NM_000487.6
p.C490R
c.1468T>C
1 paper
NM_000487.6
p.P485_Q488del0
c.1454_1462del9
2 papers
NM_000487.6
p.Q488*
c.1462C>T
1 paper
NM_000487.6
p.L487P
c.1460T>C
2 papers
NM_000487.6
p.C495F
c.1484G>T
1 paper
NM_000487.6
p.C495S
c.1484G>C
1 paper
NM_000487.6
p.C495fs
c.1483_1484fs
1 paper
NM_000487.6
p.A486S
c.1456G>T
2 papers
NM_000487.6
p.A486T
c.1456G>A
2 papers
NM_000487.6
p.T496I
c.1487C>T
1 paper
NM_000487.6
p.C495_T496insFs
c.1483_1486dup4
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