Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.H356_R363del0

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
1 paper
NM_000203.5
p.H356_R363del0
c.1068_1088del21
Surrounding Variants
2 papers
NM_000203.5
p.H358_L365del0
c.1073_1093del21
1 paper
NM_000203.5
p.P357L
c.1070C>T
1 paper
NM_000203.5
p.S354insFs
c.1060_1061insC
1 paper
NM_000203.5
p.L353R
c.1058T>G
4 papers
NM_000203.5
p.F360C
c.1079T>G
37 papers
NM_000203.5
p.A361T
c.1081G>A
2 papers
NM_000203.5
p.A351V
c.1052C>T
1 paper
NM_000203.5
p.A351T
c.1051G>A
1 paper
NM_000203.5
p.Q362*
c.1084C>T
1 paper
NM_000203.5
p.N350K
c.1050T>A
1 paper
NM_000203.5
p.N350K
c.1050T>G
1 paper
NM_000203.5
p.Q362insFs
c.1085_1086insGC
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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."