Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.A418_S419insC

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
2 papers
NM_000487.6
p.A418_S419insC
c.1252_1256ins3
Surrounding Variants
2 papers
NM_000487.6
p.A418T
c.1252G>A
2 papers
NM_000487.6
p.S420R
c.1258A>C
1 paper
NM_000487.6
p.S420N
c.1259G>A
2 papers
NM_000487.6
p.S420R
c.1260C>G
2 papers
NM_000487.6
p.S420R
c.1260C>A
3 papers
NM_000487.6
p.S421C
c.1262C>G
1 paper
NM_000487.6
p.L422fs
c.1264_1265fs
1 paper
NM_000487.6
p.L422L
c.1264C>T
2 papers
NM_000487.6
p.L422P
c.1265T>C
1 paper
NM_000487.6
p.L422delFs
c.1264delG
8 papers
NM_000487.6
p.D413G
c.1238A>G
2 papers
NM_000487.6
p.D413N
c.1237G>A
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