Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.G327Splc

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.G327Splc
c.980-6C>G
Surrounding Variants
1 paper
NM_000487.6
p.G327Splc
c.980-2A>C
1 paper
NM_000487.6
p.G327Splc
c.980-1G>C
4 papers
NM_000487.6
p.G327S
c.979G>A
2 papers
NM_000487.6
p.G327D
c.980G>A
2 papers
NM_000487.6
p.V328M
c.982G>A
1 paper
NM_000487.6
p.T329S
c.985A>T
1 paper
NM_000487.6
p.T329A
c.985A>G
5 papers
NM_000487.6
p.T329I
c.986C>T
1 paper
NM_000487.6
p.T329T
c.987C>T
3 papers
NM_000487.6
p.H330R
c.989A>G
1 paper
NM_000487.6
p.T329delFs
c.987delG
3 papers
NM_000487.6
p.E331*
c.991G>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."