Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.G445delFs

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.G445delFs
c.1334_1335delCC
Surrounding Variants
1 paper
NM_000487.6
p.G446G
c.1338T>C
1 paper
NM_000487.6
p.V447M
c.1339G>A
1 paper
NM_000487.6
p.G446S
c.1336G>A
1 paper
NM_000487.6
p.G445G
c.1335G>A
3 papers
NM_000487.6
p.G445V
c.1334G>T
1 paper
NM_000487.6
p.A448T
c.1342G>A
3 papers
NM_000487.6
p.G445_G446insT
c.1333_1337ins3
1 paper
NM_000487.6
p.L444insFs
c.1331_1332insG
16 papers
NM_000487.6
p.L444P
c.1331T>C
7 papers
NM_000487.6
p.A448insFs
c.1344dupC
2 papers
NM_000487.6
p.A448_G449insFs
c.1344_1345insCC
5 papers
NM_000487.6
p.G449R
c.1345G>C
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