Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.V179G

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
18 papers
NM_000487.6
p.V179G
c.536T>G
Surrounding Variants
2 papers
NM_000487.6
p.V179D
c.536T>A
2 papers
NM_000487.6
p.V179_P180insCA
c.535_539ins6
1 paper
NM_000487.6
p.V179I
c.535G>A
1 paper
NM_000487.6
p.P180S
c.538C>T
1 paper
NM_000487.6
p.P180L
c.539C>T
1 paper
NM_000487.6
p.P180R
c.539C>G
2 papers
NM_000487.6
p.P180H
c.539C>A
30 papers
NM_000487.6
p.I181S
c.542T>G
1 paper
NM_000487.6
p.I181N
c.542T>A
2 papers
NM_000487.6
p.G177D
c.530G>A
1 paper
NM_000487.6
p.I181insFs
c.542dupT
2 papers
NM_000487.6
p.P182S
c.544C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."