Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.F146L

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
3 papers
NM_000487.6
p.F146L
c.438T>A
Surrounding Variants
4 papers
NM_000487.6
p.F146L
c.438T>G
1 paper
NM_000487.6
p.F146S
c.437T>C
3 papers
NM_000487.6
p.F146L
c.436T>C
2 papers
NM_000487.6
p.G148R
c.442G>C
3 papers
NM_000487.6
p.G148S
c.442G>A
2 papers
NM_000487.6
p.R145Q
c.434G>A
1 paper
NM_000487.6
p.G148V
c.443G>T
2 papers
NM_000487.6
p.R145*
c.433C>T
1 paper
NM_000487.6
p.R145G
c.433C>G
1 paper
NM_000487.6
p.I149L
c.445A>C
3 papers
NM_000487.6
p.I149insFs
c.445_446insT
2 papers
NM_000487.6
p.I149T
c.446T>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."