Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.N297K

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
1 paper
NM_000203.5
p.N297K
c.891C>A
Surrounding Variants
1 paper
NM_000203.5
p.N297K
c.891C>G
1 paper
NM_000203.5
p.N297N
c.891C>T
1 paper
NM_000203.5
p.N297Y
c.889A>T
1 paper
NM_000203.5
p.D298_E299del1
c.894_896delCGA
1 paper
NM_000203.5
p.D298E
c.894C>A
1 paper
NM_000203.5
p.D298E
c.894C>G
10 papers
NM_000203.5
p.E299*
c.895G>T
4 papers
NM_000203.5
p.E299A
c.896A>C
1 paper
NM_000203.5
p.Y296ins4
c.886_887ins12
2 papers
NM_000203.5
p.E299D
c.897G>C
2 papers
NM_000203.5
p.E299D
c.897G>T
1 paper
NM_000203.5
p.I295_Y296insFs
c.885_886insTA
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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."