Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.G121G

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.G121G
c.363A>T
Surrounding Variants
3 papers
NM_000487.6
p.G121R
c.361G>C
3 papers
NM_000487.6
p.G121R
c.361G>A
4 papers
NM_000487.6
p.G124C
c.370G>T
7 papers
NM_000487.6
p.G124S
c.370G>A
1 paper
NM_000487.6
p.G124A
c.371G>C
2 papers
NM_000487.6
p.G124D
c.371G>A
1 paper
NM_000487.6
p.L119F
c.355C>T
1 paper
NM_000487.6
p.G124delFs
c.370delC
2 papers
NM_000487.6
p.W126R
c.376T>C
3 papers
NM_000487.6
p.G117V
c.350G>T
2 papers
NM_000487.6
p.G117D
c.350G>A
2 papers
NM_000487.6
p.W126*
c.377G>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."