Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.H425insFs

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.H425insFs
c.1273_1274insC
Surrounding Variants
1 paper
NM_000203.5
p.A424P
c.1270G>C
1 paper
NM_000203.5
p.A424insFs
c.1270_1271insCC
7 papers
NM_000203.5
p.S423R
c.1269C>A
7 papers
NM_000203.5
p.S423R
c.1269C>G
7 papers
NM_000203.5
p.S423R
c.1267A>C
3 papers
NM_000203.5
p.H425fs
c.1273_1274fs
1 paper
NM_000203.5
p.H425fs
c.1273_1274fs
1 paper
NM_000203.5
p.H425P
c.1274A>C
1 paper
NM_000203.5
p.R426_Q428insFs
c.1277_1283dup7
1 paper
NM_000203.5
p.R426insFs
c.1277_1278ins4
5 papers
NM_000203.5
p.L421P
c.1262T>C
1 paper
NM_000203.5
p.G429insFs
c.1285_1286insT
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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."