Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.V112D

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.V112D
c.335T>A
Surrounding Variants
1 paper
NM_000487.6
p.V112I
c.334G>A
6 papers
NM_000487.6
p.L113P
c.338T>C
1 paper
NM_000487.6
p.E111*
c.331G>T
2 papers
NM_000487.6
p.A110T
c.328G>A
1 paper
NM_000487.6
p.A115S
c.343G>T
1 paper
NM_000487.6
p.V109V
c.327G>T
1 paper
NM_000487.6
p.V109V
c.327G>C
2 papers
NM_000487.6
p.V109L
c.325G>C
3 papers
NM_000487.6
p.V109M
c.325G>A
12 papers
NM_000487.6
p.R116*
c.346C>T
1 paper
NM_000487.6
p.T108T
c.324C>T
2 papers
NM_000487.6
p.R116G
c.346C>G
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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."