Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.D292fs

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.D292fs
c.874_875fs
Surrounding Variants
3 papers
NM_000203.5
p.T293_N297ins1
c.878_889dup12
1 paper
NM_000203.5
p.D292V
c.875A>T
2 papers
NM_000203.5
p.D292delFs
c.876delC
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.F290insFs
c.869_870insC
1 paper
NM_000203.5
p.P294A
c.880C>G
1 paper
NM_000203.5
p.K289K
c.867G>A
1 paper
NM_000203.5
p.I295_Y296insFs
c.885_886insTA
1 paper
NM_000203.5
p.P288A
c.862C>G
1 paper
NM_000203.5
p.Y296ins4
c.886_887ins12
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."