Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.I283T

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.I283T
c.848T>C
Surrounding Variants
1 paper
NM_000203.5
p.L286V
c.856C>G
1 paper
NM_000203.5
p.V279A
c.836T>C
1 paper
NM_000203.5
p.V279I
c.835G>A
1 paper
NM_000203.5
p.P288A
c.862C>G
1 paper
NM_000203.5
p.V278A
c.833T>C
1 paper
NM_000203.5
p.K289K
c.867G>A
1 paper
NM_000203.5
p.F290insFs
c.869_870insC
12 papers
NM_000203.5
p.E276K
c.826G>A
3 papers
NM_000203.5
p.A291T
c.871G>A
1 paper
NM_000203.5
p.A291_D292insC
c.871_875ins3
1 paper
NM_000203.5
p.A291S
c.871G>T
1 paper
NM_000203.5
p.E276_V278del0
c.826_834del9
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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."