Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.L79L

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.L79L
c.235C>T
Surrounding Variants
1 paper
NM_000487.6
p.L78H
c.233T>A
1 paper
NM_000487.6
p.T80A
c.238A>G
1 paper
NM_000487.6
p.T80I
c.239C>T
1 paper
NM_000487.6
p.T80T
c.240C>G
2 papers
NM_000487.6
p.T80insFs
c.240dupC
3 papers
NM_000487.6
p.A77P
c.229G>C
2 papers
NM_000487.6
p.G81R
c.241G>C
2 papers
NM_000487.6
p.G81S
c.241G>A
1 paper
NM_000487.6
p.A77T
c.229G>A
1 paper
NM_000487.6
p.G81A
c.242G>C
1 paper
NM_000487.6
p.G81G
c.243C>T
1 paper
NM_000487.6
p.A76D
c.227C>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."