Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.Q215H

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.Q215H
c.645G>C
Surrounding Variants
2 papers
NM_000487.6
p.Q215H
c.645G>T
2 papers
NM_000487.6
p.R216C
c.646C>T
1 paper
NM_000487.6
p.R216insFs
c.646_647insT
1 paper
NM_000487.6
p.Q215R
c.644A>G
1 paper
NM_000487.6
p.R216insFs
c.646dupC
2 papers
NM_000487.6
p.R216H
c.647G>A
2 papers
NM_000487.6
p.Q215*
c.643C>T
7 papers
NM_000487.6
p.A214V
c.641C>T
1 paper
NM_000487.6
p.A214insFs
c.641_642insT
2 papers
NM_000487.6
p.A214D
c.641C>A
6 papers
NM_000487.6
p.A214P
c.640G>C
7 papers
NM_000487.6
p.A214T
c.640G>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."