Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.G247R

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
7 papers
NM_000487.6
p.G247R
c.739G>C
Surrounding Variants
8 papers
NM_000487.6
p.G247R
c.739G>A
1 paper
NM_000487.6
p.R246R
c.738C>A
6 papers
NM_000487.6
p.R246H
c.737G>A
9 papers
NM_000487.6
p.R246C
c.736C>T
3 papers
NM_000487.6
p.G245D
c.734G>A
1 paper
NM_000487.6
p.R246_P248insFs
c.737_744dup8
11 papers
NM_000487.6
p.G245R
c.733G>C
5 papers
NM_000487.6
p.G245S
c.733G>A
1 paper
NM_000487.6
p.F249C
c.746T>G
5 papers
NM_000487.6
p.F249S
c.746T>C
1 paper
NM_000487.6
p.F249Y
c.746T>A
1 paper
NM_000487.6
p.S244S
c.732A>T
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