Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.Q141delFs

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.Q141delFs
c.421delG
Surrounding Variants
3 papers
NM_000487.6
p.Q141*
c.421C>T
1 paper
NM_000487.6
p.Q141K
c.421C>A
3 papers
NM_000487.6
p.H140fs
c.418_419fs
4 papers
NM_000487.6
p.H140insFs
c.418_419insC
2 papers
NM_000487.6
p.H140delFs
c.418delG
2 papers
NM_000487.6
p.P139del1
c.415_417delGGG
2 papers
NM_000487.6
p.H140Y
c.418C>T
4 papers
NM_000487.6
p.H140D
c.418C>G
3 papers
NM_000487.6
p.F143L
c.427T>C
3 papers
NM_000487.6
p.P139L
c.416C>T
3 papers
NM_000487.6
p.F143L
c.429C>G
2 papers
NM_000487.6
p.F143L
c.429C>A
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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."