Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.I279delins

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.I279delins
c.836_837delinsAG
Surrounding Variants
2 papers
NM_000487.6
p.I279M
c.837C>G
1 paper
NM_000487.6
p.I279Fs
c.836_837delinsAFs
2 papers
NM_000487.6
p.I279delins
c.836_837delinsAA
2 papers
NM_000487.6
p.V278F
c.832G>T
4 papers
NM_000487.6
p.T281I
c.842C>T
2 papers
NM_000487.6
p.L277P
c.830T>C
1 paper
NM_000487.6
p.T276_L277delFs
c.828_829delGC
1 paper
NM_000487.6
p.A282T
c.844G>A
1 paper
NM_000487.6
p.L277L
c.829C>T
1 paper
NM_000487.6
p.L277M
c.829C>A
1 paper
NM_000487.6
p.T276T
c.828G>A
4 papers
NM_000487.6
p.D283Y
c.847G>T
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