Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.D315Y

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
12 papers
NM_000203.5
p.D315Y
c.943G>T
Surrounding Variants
3 papers
NM_000203.5
p.A314A
c.942G>C
1 paper
NM_000203.5
p.A314T
c.940G>A
1 paper
NM_000203.5
p.V316M
c.946G>A
4 papers
NM_000203.5
p.W312*
c.936G>A
4 papers
NM_000203.5
p.W312*
c.935G>A
1 paper
NM_000203.5
p.P311Q
c.932C>A
2 papers
NM_000203.5
p.A319T
c.955G>A
11 papers
NM_000203.5
p.A319V
c.956C>T
7 papers
NM_000203.5
p.Q310*
c.928C>T
1 paper
NM_000203.5
p.V323del1
c.967_968delGTG
1 paper
NM_000203.5
p.P309T
c.925C>A
1 paper
NM_000203.5
p.V322delFs
c.964delG
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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."