Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.G101G

IDUA

727 papers

RefSeq Summary

This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal d...

Pfam Domains

Glyco_hydro_39aa 30–525UCSCGlycosyl hydrolases family 39
Glyco_hydro_39_Caa 552–640UCSCAlpha-L-iduronidase C-terminal domain

Gene Aliases

HGNC Name

alpha-L-iduronidase

HGNC Alias Symbols

MPS1; MPSI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000203.5
p.G101G
c.303G>A
Surrounding Variants
1 paper
NM_000203.5
p.G101E
c.302G>A
5 papers
NM_000203.5
p.G101R
c.301G>C
1 paper
NM_000203.5
p.S102S
c.306C>G
5 papers
NM_000203.5
p.T103P
c.307A>C
3 papers
NM_000203.5
p.R100Splc
c.300-1G>C
9 papers
NM_000203.5
p.R100Splc
c.300-3C>G
1 paper
NM_000203.5
p.G104E
c.311G>A
1 paper
NM_000203.5
p.R105G
c.313C>G
37 papers
NM_000203.5
p.R105Q
c.314G>A
1 paper
NM_000203.5
p.G106G
c.318C>T
3 papers
NM_000203.5
p.Y109H
c.325T>C
2 papers
NM_000203.5
p.N110D
c.328A>G
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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."