Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.S188A

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.S188A
c.562T>G
Surrounding Variants
2 papers
NM_000487.6
p.S188_V189insA
c.562_566ins3
1 paper
NM_000487.6
p.L187_S188insFs
c.561_562insC
1 paper
NM_000487.6
p.L183_S188delFs
c.549_562del14
2 papers
NM_000487.6
p.V189M
c.565G>A
1 paper
NM_000487.6
p.S188delFs
c.564delG
1 paper
NM_000487.6
p.A185A
c.555C>T
1 paper
NM_000487.6
p.E190V
c.569A>T
2 papers
NM_000487.6
p.A185S
c.553G>T
2 papers
NM_000487.6
p.A191T
c.571G>A
2 papers
NM_000487.6
p.A191V
c.572C>T
1 paper
NM_000487.6
p.L184*
c.551T>A
1 paper
NM_000487.6
p.L183L
c.549G>A
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