Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.P362T

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.P362T
c.1084C>A
Surrounding Variants
3 papers
NM_000487.6
p.S361N
c.1082G>A
2 papers
NM_000487.6
p.L360P
c.1079T>C
2 papers
NM_000487.6
p.L364L
c.1090C>T
2 papers
NM_000487.6
p.D359Y
c.1075G>T
2 papers
NM_000487.6
p.D359N
c.1075G>A
1 paper
NM_000487.6
p.L365insFs
c.1093_1094insG
1 paper
NM_000487.6
p.L365P
c.1094T>C
1 paper
NM_000487.6
p.L365L
c.1095G>A
1 paper
NM_000487.6
p.G366D
c.1097G>A
4 papers
NM_000487.6
p.G357V
c.1070G>T
1 paper
NM_000487.6
p.G357R
c.1069G>C
1 paper
NM_000487.6
p.T367I
c.1100C>T
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