Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.P302A

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.P302A
c.904C>G
Surrounding Variants
1 paper
NM_000203.5
p.P302T
c.904C>A
1 paper
NM_000203.5
p.P302S
c.904C>T
6 papers
NM_000203.5
p.D301E
c.903C>A
6 papers
NM_000203.5
p.D301E
c.903C>G
2 papers
NM_000203.5
p.D301H
c.901G>C
1 paper
NM_000203.5
p.D301Y
c.901G>T
4 papers
NM_000203.5
p.L303P
c.908T>C
11 papers
NM_000203.5
p.A300T
c.898G>A
2 papers
NM_000203.5
p.V304fs
c.910_911fs
8 papers
NM_000203.5
p.V304delFs
c.911delT
6 papers
NM_000203.5
p.V304fs
c.910_911fs
1 paper
NM_000203.5
p.V304_S307del0
c.911_919del9
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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."