Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.S297S

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.S297S
c.891C>T
Surrounding Variants
1 paper
NM_000487.6
p.G298fs
c.892_893fs
1 paper
NM_000487.6
p.G298C
c.892G>T
2 papers
NM_000487.6
p.G298S
c.892G>A
1 paper
NM_000487.6
p.S297F
c.890C>T
1 paper
NM_000487.6
p.S297Y
c.890C>A
6 papers
NM_000487.6
p.G298V
c.893G>T
2 papers
NM_000487.6
p.G298D
c.893G>A
2 papers
NM_000487.6
p.C296Y
c.887G>A
3 papers
NM_000487.6
p.L299F
c.895C>T
1 paper
NM_000487.6
p.L299insFs
c.896_897insC
2 papers
NM_000487.6
p.L299P
c.896T>C
2 papers
NM_000487.6
p.S297_L299delFs
c.891_895del5
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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."