Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.H425N

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.H425N
c.1273C>A
Surrounding Variants
4 papers
NM_000487.6
p.H425Y
c.1273C>T
2 papers
NM_000487.6
p.H425D
c.1273C>G
3 papers
NM_000487.6
p.H425R
c.1274A>G
2 papers
NM_000487.6
p.A424V
c.1271C>T
2 papers
NM_000487.6
p.E426G
c.1277A>G
1 paper
NM_000487.6
p.E426insFs
c.1277_1278ins4
2 papers
NM_000487.6
p.P427S
c.1279C>T
1 paper
NM_000487.6
p.P427T
c.1279C>A
2 papers
NM_000487.6
p.L422P
c.1265T>C
1 paper
NM_000487.6
p.L422delFs
c.1264delG
1 paper
NM_000487.6
p.L422fs
c.1264_1265fs
1 paper
NM_000487.6
p.L422L
c.1264C>T
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