Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R100Splc

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.R100Splc
c.299+5G>T
Surrounding Variants
5 papers
NM_000203.5
p.R100Splc
c.299+6C>T
2 papers
NM_000203.5
p.R100Splc
c.299+4G>A
2 papers
NM_000203.5
p.R100Splc
c.299+7G>A
1 paper
NM_000203.5
p.R100Splc
c.299+9C>T
2 papers
NM_000203.5
p.R100Splc
c.299+1G>A
1 paper
NM_000203.5
p.R100K
c.299G>A
3 papers
NM_000203.5
p.R100G
c.298A>G
9 papers
NM_000203.5
p.T99I
c.296C>T
1 paper
NM_000203.5
p.T98insFs
c.292_293insC
1 paper
NM_000203.5
p.V97_T98insFs
c.291_292insC
1 paper
NM_000203.5
p.V97delFs
c.290delT
1 paper
NM_000203.5
p.E95K
c.283G>A
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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."