Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.L430P

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.L430P
c.1289T>C
Surrounding Variants
3 papers
NM_000487.6
p.L430F
c.1288C>T
5 papers
NM_000487.6
p.L429P
c.1286T>C
2 papers
NM_000487.6
p.Y431C
c.1292A>G
4 papers
NM_000487.6
p.Y431S
c.1292A>C
4 papers
NM_000487.6
p.D432Y
c.1294G>T
3 papers
NM_000487.6
p.D432H
c.1294G>C
1 paper
NM_000487.6
p.H425_P428delins
c.1274_1284delinsCCCCCCCC
32 papers
NM_000487.6
p.P428L
c.1283C>T
1 paper
NM_000487.6
p.D432V
c.1295A>T
1 paper
NM_000487.6
p.L433L
c.1297C>T
5 papers
NM_000487.6
p.L433V
c.1297C>G
2 papers
NM_000487.6
p.P427S
c.1279C>T
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