Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.C174R

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.C174R
c.520T>C
Surrounding Variants
4 papers
NM_000487.6
p.C174Y
c.521G>A
4 papers
NM_000487.6
p.G172C
c.514G>T
4 papers
NM_000487.6
p.G172S
c.514G>A
3 papers
NM_000487.6
p.Q176*
c.526C>T
1 paper
NM_000487.6
p.D171V
c.512A>T
2 papers
NM_000487.6
p.D171Y
c.511G>T
5 papers
NM_000487.6
p.D171N
c.511G>A
2 papers
NM_000487.6
p.G177D
c.530G>A
2 papers
NM_000487.6
p.C170C
c.510C>T
2 papers
NM_000487.6
p.C170*
c.510C>A
2 papers
NM_000487.6
p.P169R
c.506C>G
1 paper
NM_000487.6
p.T168delFs
c.503_504delAG
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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."