Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R531delFs

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
3 papers
NM_000203.5
p.R531delFs
c.1592delG
Surrounding Variants
1 paper
NM_000203.5
p.R531fs
c.1591_1592fs
1 paper
NM_000203.5
p.R531delFs
c.1591delC
1 paper
NM_000203.5
p.L530Q
c.1589T>A
1 paper
NM_000203.5
p.L530insFs
c.1589_1590insGC
3 papers
NM_000203.5
p.L530fs
c.1588_1589fs
2 papers
NM_000203.5
p.A529_L530insFs
c.1587_1588insGC
1 paper
NM_000203.5
p.P533T
c.1597C>A
1 paper
NM_000203.5
p.P533A
c.1597C>G
1 paper
NM_000203.5
p.P533S
c.1597C>T
135 papers
NM_000203.5
p.P533R
c.1598C>G
10 papers
NM_000203.5
p.P533L
c.1598C>T
1 paper
NM_000203.5
p.P528A
c.1582C>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."