Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.R468G

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
12 papers
NM_000202.8
p.R468G
c.1402C>G
Surrounding Variants
1 paper
NM_000202.8
p.R468fs
c.1402_1403fs
59 papers
NM_000202.8
p.R468W
c.1402C>T
22 papers
NM_000202.8
p.R468L
c.1403G>T
6 papers
NM_000202.8
p.R468P
c.1403G>C
73 papers
NM_000202.8
p.R468Q
c.1403G>A
3 papers
NM_000202.8
p.R468delFs
c.1402delG
1 paper
NM_000202.8
p.R468_P469ins3
c.1404_1405ins9
15 papers
NM_000202.8
p.P467L
c.1400C>T
2 papers
NM_000202.8
p.P467R
c.1400C>G
1 paper
NM_000202.8
p.P469A
c.1405C>G
1 paper
NM_000202.8
p.Y466_R468ins1
c.1396_1404dup9
1 paper
NM_000202.8
p.Y466del1
c.1396_1397delATA
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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."