Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.N63D

IDS

423 papers

RefSeq Summary

This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degr...

Pfam Domains

Sulfataseaa 37–416UCSCSulfatase

Gene Aliases

HGNC Name

iduronate 2-sulfatase

HGNC Previous Symbol

SIDS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
20 papers
NM_000202.8
p.N63D
c.187A>G
Surrounding Variants
3 papers
NM_000202.8
p.S61delFs
c.182delG
6 papers
NM_000202.8
p.N63K
c.189T>G
6 papers
NM_000202.8
p.N63K
c.189T>A
1 paper
NM_000202.8
p.P62S
c.184C>T
1 paper
NM_000202.8
p.S61_N63delFs
c.182_189del8
1 paper
NM_000202.8
p.P62fs
c.184_185fs
1 paper
NM_000202.8
p.I64delins
c.190_191delinsAT
6 papers
NM_000202.8
p.S61F
c.182C>T
6 papers
NM_000202.8
p.S61Y
c.182C>A
6 papers
NM_000202.8
p.S61P
c.181T>C
1 paper
NM_000202.8
p.D65Y
c.193G>T
1 paper
NM_000202.8
p.S61fs
c.181_182fs
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