Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.F206V

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.F206V
c.616T>G
Surrounding Variants
2 papers
NM_000487.6
p.A207T
c.619G>A
3 papers
NM_000487.6
p.A207D
c.620C>A
2 papers
NM_000487.6
p.H208fs
c.622_623fs
2 papers
NM_000487.6
p.H208Y
c.622C>T
6 papers
NM_000487.6
p.H208delFs
c.622delG
4 papers
NM_000487.6
p.Y203C
c.608A>G
1 paper
NM_000487.6
p.L199_Y203delFs
c.595_607del13
3 papers
NM_000487.6
p.Y203H
c.607T>C
1 paper
NM_000487.6
p.Y203N
c.607T>A
1 paper
NM_000487.6
p.D209N
c.625G>A
1 paper
NM_000487.6
p.R202R
c.606C>T
2 papers
NM_000487.6
p.R202H
c.605G>A
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."