Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.P193P

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.P193P
c.579C>G
Surrounding Variants
1 paper
NM_000487.6
p.P193L
c.578C>T
2 papers
NM_000487.6
p.P194A
c.580C>G
2 papers
NM_000487.6
p.P194L
c.581C>T
2 papers
NM_000487.6
p.P193S
c.577C>T
3 papers
NM_000487.6
p.P194R
c.581C>G
4 papers
NM_000487.6
p.P193T
c.577C>A
1 paper
NM_000487.6
p.Q192H
c.576G>T
2 papers
NM_000487.6
p.Q192H
c.576G>C
1 paper
NM_000487.6
p.P194fs
c.580_581fs
2 papers
NM_000487.6
p.P194insFs
c.582dupC
2 papers
NM_000487.6
p.P194delFs
c.582delG
1 paper
NM_000487.6
p.W195fs
c.583_584fs
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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."