Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.G438S

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.G438S
c.1312G>A
Surrounding Variants
2 papers
NM_000487.6
p.G438V
c.1313G>T
1 paper
NM_000487.6
p.K435_G438del4
c.1303_1313del12
2 papers
NM_000487.6
p.P437T
c.1309C>A
3 papers
NM_000487.6
p.D436N
c.1306G>A
2 papers
NM_000487.6
p.N440K
c.1320C>G
2 papers
NM_000487.6
p.N440K
c.1320C>A
1 paper
NM_000487.6
p.S434A
c.1300T>G
4 papers
NM_000487.6
p.N442S
c.1325A>G
1 paper
NM_000487.6
p.L433L
c.1297C>T
5 papers
NM_000487.6
p.L433V
c.1297C>G
1 paper
NM_000487.6
p.L443P
c.1328T>C
1 paper
NM_000487.6
p.D432V
c.1295A>T
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