Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.S292fs

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
2 papers
NM_000487.6
p.S292fs
c.874_875fs
Surrounding Variants
2 papers
NM_000487.6
p.S292F
c.875C>T
1 paper
NM_000487.6
p.S292S
c.876C>T
4 papers
NM_000487.6
p.R293*
c.877C>T
1 paper
NM_000487.6
p.R293R
c.877C>A
3 papers
NM_000487.6
p.R293Q
c.878G>A
8 papers
NM_000487.6
p.R290H
c.869G>A
6 papers
NM_000487.6
p.R290C
c.868C>T
2 papers
NM_000487.6
p.R290S
c.868C>A
1 paper
NM_000487.6
p.G294A
c.881G>C
2 papers
NM_000487.6
p.M289T
c.866T>C
1 paper
NM_000487.6
p.G294G
c.882C>T
3 papers
NM_000487.6
p.G295C
c.883G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."