Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.K465E

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.K465E
c.1393A>G
Surrounding Variants
2 papers
NM_000487.6
p.L464P
c.1391T>C
1 paper
NM_000487.6
p.L464F
c.1390C>T
1 paper
NM_000487.6
p.L464insFs
c.1390_1391insA
2 papers
NM_000487.6
p.A466V
c.1397C>T
1 paper
NM_000487.6
p.Q467R
c.1400A>G
1 paper
NM_000487.6
p.L468I
c.1402T>A
1 paper
NM_000487.6
p.Q462*
c.1384C>T
1 paper
NM_000487.6
p.D469insFs
c.1405_1406insT
1 paper
NM_000487.6
p.D469D
c.1407C>T
2 papers
NM_000487.6
p.A470T
c.1408G>A
1 paper
NM_000487.6
p.Q460*
c.1378C>T
2 papers
NM_000487.6
p.Q460E
c.1378C>G
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