Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.R99Q

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
5 papers
NM_000487.6
p.R99Q
c.296G>A
Surrounding Variants
4 papers
NM_000487.6
p.R99L
c.296G>T
2 papers
NM_000487.6
p.R99P
c.296G>C
2 papers
NM_000487.6
p.R99fs
c.295_296fs
1 paper
NM_000487.6
p.S98fs
c.292_293fs
5 papers
NM_000487.6
p.S98F
c.293C>T
1 paper
NM_000487.6
p.S98delins
c.292_293delinsCT
3 papers
NM_000487.6
p.S98Fs
c.292delinsCCFs
1 paper
NM_000487.6
p.S98fs
c.292_293fs
1 paper
NM_000487.6
p.G101R
c.301G>C
1 paper
NM_000487.6
p.G101fs
c.301_302fs
13 papers
NM_000487.6
p.G101V
c.302G>T
3 papers
NM_000487.6
p.G101D
c.302G>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."