Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.P544_P548delFs

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.P544_P548delFs
c.1632_1644del13
Surrounding Variants
2 papers
NM_000203.5
p.R543delFs
c.1629delC
1 paper
NM_000203.5
p.C541F
c.1622G>T
1 paper
NM_000203.5
p.P544R
c.1631C>G
1 paper
NM_000203.5
p.E545K
c.1633G>A
1 paper
NM_000203.5
p.E545*
c.1633G>T
2 papers
NM_000203.5
p.E545delFs
c.1634delA
3 papers
NM_000203.5
p.E545fs
c.1633_1634fs
1 paper
NM_000203.5
p.E545ins1
c.1634_1635insGGG
1 paper
NM_000203.5
p.E545Fs
c.1634delinsGGGFs
1 paper
NM_000203.5
p.H539H
c.1617C>T
1 paper
NM_000203.5
p.K546*
c.1636A>T
3 papers
NM_000203.5
p.H539fs
c.1615_1616fs
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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."