Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.W68*

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.W68*
c.204G>A
Surrounding Variants
2 papers
NM_000203.5
p.W68*
c.203G>A
223 papers
NM_000203.5
p.Q70*
c.208C>T
1 paper
NM_000203.5
p.Q70delFs
c.209delA
1 paper
NM_000203.5
p.L72insFs
c.215dupT
1 paper
NM_000203.5
p.L72P
c.215T>C
2 papers
NM_000203.5
p.L72R
c.215T>G
17 papers
NM_000203.5
p.Y64*
c.192C>A
13 papers
NM_000203.5
p.Y64*
c.192C>G
2 papers
NM_000203.5
p.N73H
c.217A>C
1 paper
NM_000203.5
p.N73S
c.218A>G
1 paper
NM_000203.5
p.L74_Y76delFs
c.222_226del5
1 paper
NM_000203.5
p.Y64delins
c.190_191delinsAT
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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."