Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R628*

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
38 papers
NM_000203.5
p.R628*
c.1882C>T
Surrounding Variants
2 papers
NM_000203.5
p.R628G
c.1882C>G
9 papers
NM_000203.5
p.R628P
c.1883G>C
9 papers
NM_000203.5
p.W626*
c.1878G>A
9 papers
NM_000203.5
p.W626*
c.1877G>A
1 paper
NM_000203.5
p.G630R
c.1888G>C
8 papers
NM_000203.5
p.W626R
c.1876T>A
8 papers
NM_000203.5
p.W626R
c.1876T>C
1 paper
NM_000203.5
p.G630D
c.1889G>A
2 papers
NM_000203.5
p.P631delFs
c.1893delC
7 papers
NM_000203.5
p.Y625S
c.1874A>C
6 papers
NM_000203.5
p.Y625C
c.1874A>G
1 paper
NM_000203.5
p.Y625fs
c.1873_1874fs
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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."