Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.L272Q

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.L272Q
c.815T>A
Surrounding Variants
1 paper
NM_000487.6
p.L273L
c.819T>C
3 papers
NM_000487.6
p.G271R
c.811G>C
3 papers
NM_000487.6
p.G271R
c.811G>A
2 papers
NM_000487.6
p.E274K
c.820G>A
1 paper
NM_000487.6
p.D269D
c.807C>T
2 papers
NM_000487.6
p.D269N
c.805G>A
2 papers
NM_000487.6
p.T276S
c.826A>T
2 papers
NM_000487.6
p.G268V
c.803G>T
15 papers
NM_000487.6
p.T276M
c.827C>T
2 papers
NM_000487.6
p.T276K
c.827C>A
2 papers
NM_000487.6
p.G268R
c.802G>C
2 papers
NM_000487.6
p.G268R
c.802G>A
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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."