Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.T497delFs

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.T497delFs
c.1491delG
Surrounding Variants
1 paper
NM_000203.5
p.T497fs
c.1489_1490fs
1 paper
NM_000203.5
p.T497A
c.1489A>G
16 papers
NM_000203.5
p.P496R
c.1487C>G
11 papers
NM_000203.5
p.P496L
c.1487C>T
1 paper
NM_000203.5
p.E499D
c.1497G>C
2 papers
NM_000203.5
p.Q500*
c.1498C>T
1 paper
NM_000203.5
p.Q500R
c.1499A>G
2 papers
NM_000203.5
p.F501L
c.1501T>C
1 paper
NM_000203.5
p.P493R
c.1478C>G
2 papers
NM_000203.5
p.F501L
c.1503C>A
2 papers
NM_000203.5
p.F501L
c.1503C>G
1 paper
NM_000203.5
p.P493Fs
c.1477_1479delinsAGAGACAFs
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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."