Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.E299D

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.E299D
c.897G>C
Surrounding Variants
2 papers
NM_000203.5
p.E299D
c.897G>T
4 papers
NM_000203.5
p.E299A
c.896A>C
11 papers
NM_000203.5
p.A300T
c.898G>A
10 papers
NM_000203.5
p.E299*
c.895G>T
1 paper
NM_000203.5
p.D298E
c.894C>A
1 paper
NM_000203.5
p.D298E
c.894C>G
2 papers
NM_000203.5
p.D301H
c.901G>C
1 paper
NM_000203.5
p.D301Y
c.901G>T
6 papers
NM_000203.5
p.D301E
c.903C>A
1 paper
NM_000203.5
p.N297K
c.891C>A
6 papers
NM_000203.5
p.D301E
c.903C>G
1 paper
NM_000203.5
p.N297K
c.891C>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."