Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.P315L

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.P315L
c.944C>T
Surrounding Variants
4 papers
NM_000487.6
p.E314D
c.942G>T
4 papers
NM_000487.6
p.E314D
c.942G>C
3 papers
NM_000487.6
p.A316T
c.946G>A
2 papers
NM_000487.6
p.A316D
c.947C>A
2 papers
NM_000487.6
p.R313L
c.938G>T
4 papers
NM_000487.6
p.R313P
c.938G>C
11 papers
NM_000487.6
p.R313Q
c.938G>A
2 papers
NM_000487.6
p.L317F
c.951G>T
2 papers
NM_000487.6
p.L317F
c.951G>C
3 papers
NM_000487.6
p.R313*
c.937C>T
1 paper
NM_000487.6
p.A318Fs
c.954delinsGCFs
2 papers
NM_000487.6
p.F319C
c.956T>G
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."