Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.Q155_G156Splc

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.Q155_G156Splc
c.466-8C>T
Surrounding Variants
1 paper
NM_000487.6
p.Q155_G156Splc
c.466-8C>G
2 papers
NM_000487.6
p.Q155_G156Splc
c.466-7G>C
1 paper
NM_000487.6
p.Q155_G156Splc
c.466-7G>A
1 paper
NM_000487.6
p.Q155_G156Splc
c.466-11G>C
1 paper
NM_000487.6
p.Q155_G156Splc
c.466-2A>G
3 papers
NM_000487.6
p.G156R
c.466G>C
2 papers
NM_000487.6
p.G156fs
c.466_467fs
7 papers
NM_000487.6
p.G156D
c.467G>A
1 paper
NM_000487.6
p.Q155_G156Splc
c.466-18G>C
1 paper
NM_000487.6
p.G156G
c.468C>A
2 papers
NM_000487.6
p.G156delFs
c.467delC
1 paper
NM_000487.6
p.P157S
c.469C>T
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