Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.L300S

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
14 papers
NM_000487.6
p.L300S
c.899T>C
Surrounding Variants
2 papers
NM_000487.6
p.L300V
c.898T>G
2 papers
NM_000487.6
p.L300F
c.900G>T
2 papers
NM_000487.6
p.L300F
c.900G>C
4 papers
NM_000487.6
p.R301W
c.901C>T
2 papers
NM_000487.6
p.R301G
c.901C>G
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
2 papers
NM_000487.6
p.R301L
c.902G>T
2 papers
NM_000487.6
p.R301P
c.902G>C
9 papers
NM_000487.6
p.R301Q
c.902G>A
1 paper
NM_000487.6
p.R301R
c.903G>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."