Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.G129A

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.G129A
c.386G>C
Surrounding Variants
2 papers
NM_000487.6
p.G129R
c.385G>C
2 papers
NM_000487.6
p.G129G
c.387G>A
2 papers
NM_000487.6
p.G129R
c.385G>A
3 papers
NM_000487.6
p.L128R
c.383T>G
2 papers
NM_000487.6
p.L128P
c.383T>C
1 paper
NM_000487.6
p.G131R
c.391G>A
1 paper
NM_000487.6
p.H127R
c.380A>G
1 paper
NM_000487.6
p.H127insFs
c.380_381insTA
1 paper
NM_000487.6
p.H127Y
c.379C>T
2 papers
NM_000487.6
p.W126*
c.378G>A
2 papers
NM_000487.6
p.W126*
c.377G>A
2 papers
NM_000487.6
p.W126R
c.376T>C
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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."