Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.L422L

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.L422L
c.1264C>T
Surrounding Variants
1 paper
NM_000487.6
p.L422fs
c.1264_1265fs
2 papers
NM_000487.6
p.L422P
c.1265T>C
1 paper
NM_000487.6
p.L422delFs
c.1264delG
3 papers
NM_000487.6
p.S421C
c.1262C>G
2 papers
NM_000487.6
p.S420R
c.1260C>G
2 papers
NM_000487.6
p.S420R
c.1260C>A
1 paper
NM_000487.6
p.S420N
c.1259G>A
2 papers
NM_000487.6
p.S420R
c.1258A>C
2 papers
NM_000487.6
p.A424V
c.1271C>T
4 papers
NM_000487.6
p.H425Y
c.1273C>T
2 papers
NM_000487.6
p.H425D
c.1273C>G
1 paper
NM_000487.6
p.H425N
c.1273C>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."