Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.M264V

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.M264V
c.790A>G
Surrounding Variants
1 paper
NM_000487.6
p.T265I
c.794C>T
1 paper
NM_000487.6
p.T265delFs
c.794delG
2 papers
NM_000487.6
p.G261R
c.781G>C
2 papers
NM_000487.6
p.G261R
c.781G>A
2 papers
NM_000487.6
p.I267V
c.799A>G
2 papers
NM_000487.6
p.I267T
c.800T>C
1 paper
NM_000487.6
p.V260V
c.780G>A
2 papers
NM_000487.6
p.G268R
c.802G>C
2 papers
NM_000487.6
p.G268R
c.802G>A
1 paper
NM_000487.6
p.A259_V260ins8
c.777_778ins24
1 paper
NM_000487.6
p.A259_V260ins11
c.777_778ins33
2 papers
NM_000487.6
p.G268V
c.803G>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."