Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.G84S

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
5 papers
NM_000203.5
p.G84S
c.250G>A
Surrounding Variants
9 papers
NM_000203.5
p.G84R
c.250G>C
6 papers
NM_000203.5
p.G84A
c.251G>C
4 papers
NM_000203.5
p.G84_I85insFs
c.252_253insC
2 papers
NM_000203.5
p.R83H
c.248G>A
1 paper
NM_000203.5
p.R83S
c.247C>A
3 papers
NM_000203.5
p.R83C
c.247C>T
26 papers
NM_000203.5
p.H82Q
c.246C>A
27 papers
NM_000203.5
p.H82Q
c.246C>G
1 paper
NM_000203.5
p.H82H
c.246C>T
11 papers
NM_000203.5
p.H82P
c.245A>C
2 papers
NM_000203.5
p.P81S
c.241C>T
1 paper
NM_000203.5
p.Q87*
c.259C>T
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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."