Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.D257E

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.D257E
c.771T>A
Surrounding Variants
2 papers
NM_000487.6
p.D257E
c.771T>G
6 papers
NM_000487.6
p.D257H
c.769G>C
2 papers
NM_000487.6
p.D257N
c.769G>A
1 paper
NM_000487.6
p.A259_V260ins8
c.777_778ins24
1 paper
NM_000487.6
p.A259_V260ins11
c.777_778ins33
1 paper
NM_000487.6
p.E255D
c.765G>T
1 paper
NM_000487.6
p.E255D
c.765G>C
1 paper
NM_000487.6
p.E255delins
c.763_764delinsCT
5 papers
NM_000487.6
p.E255K
c.763G>A
1 paper
NM_000487.6
p.V260V
c.780G>A
2 papers
NM_000487.6
p.M254T
c.761T>C
2 papers
NM_000487.6
p.G261R
c.781G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."