Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.K304M

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.K304M
c.911A>T
Surrounding Variants
4 papers
NM_000487.6
p.K304R
c.911A>G
2 papers
NM_000487.6
p.K304N
c.912G>T
3 papers
NM_000487.6
p.K304N
c.912G>C
1 paper
NM_000487.6
p.K304K
c.912G>A
1 paper
NM_000487.6
p.K304E
c.910A>G
1 paper
NM_000487.6
p.G305R
c.913G>C
2 papers
NM_000487.6
p.G305R
c.913G>A
4 papers
NM_000487.6
p.G303R
c.907G>C
5 papers
NM_000487.6
p.G303R
c.907G>A
2 papers
NM_000487.6
p.C302F
c.905G>T
2 papers
NM_000487.6
p.C302Y
c.905G>A
10 papers
NM_000487.6
p.T306M
c.917C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."