Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.V95G

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.V95G
c.284T>G
Surrounding Variants
3 papers
NM_000487.6
p.V95M
c.283G>A
2 papers
NM_000487.6
p.P96A
c.286C>G
1 paper
NM_000487.6
p.P96L
c.287C>T
2 papers
NM_000487.6
p.L94V
c.280C>G
1 paper
NM_000487.6
p.S97insFs
c.289_290insG
2 papers
NM_000487.6
p.S97N
c.290G>A
2 papers
NM_000487.6
p.G92delFs
c.276delG
3 papers
NM_000487.6
p.S98Fs
c.292delinsCCFs
1 paper
NM_000487.6
p.S98fs
c.292_293fs
2 papers
NM_000487.6
p.G92D
c.275G>A
5 papers
NM_000487.6
p.S98F
c.293C>T
1 paper
NM_000487.6
p.S98delins
c.292_293delinsCT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."