Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.T411I

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.T411I
c.1232C>T
Surrounding Variants
5 papers
NM_000487.6
p.S408_T411del0
c.1223_1231del9
2 papers
NM_000487.6
p.T410del1
c.1228_1229delGGT
1 paper
NM_000487.6
p.A412_D413insC
c.1234_1238ins3
2 papers
NM_000487.6
p.T410delFs
c.1228_1229delGT
4 papers
NM_000487.6
p.T410I
c.1229C>T
1 paper
NM_000487.6
p.A412E
c.1235C>A
1 paper
NM_000487.6
p.D409delFs
c.1226_1227delAT
2 papers
NM_000487.6
p.D413N
c.1237G>A
1 paper
NM_000487.6
p.D409V
c.1226A>T
8 papers
NM_000487.6
p.D413G
c.1238A>G
3 papers
NM_000487.6
p.D409G
c.1226A>G
2 papers
NM_000487.6
p.S405_S408del0
c.1215_1223del9
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