Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.T366P

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
16 papers
NM_000203.5
p.T366P
c.1096A>C
Surrounding Variants
2 papers
NM_000203.5
p.T366fs
c.1096_1097fs
2 papers
NM_000203.5
p.T366_A367delFs
c.1096_1099del4
1 paper
NM_000203.5
p.R368delFs
c.1103_1104delGC
1 paper
NM_000203.5
p.L365fs
c.1093_1094fs
7 papers
NM_000203.5
p.L365V
c.1093C>G
1 paper
NM_000203.5
p.A367T
c.1099G>A
1 paper
NM_000203.5
p.A367P
c.1099G>C
1 paper
NM_000203.5
p.A367fs
c.1099_1100fs
1 paper
NM_000203.5
p.A367_F369Fs
c.1099_1107delinsAGGTCACFs
1 paper
NM_000203.5
p.A367E
c.1100C>A
1 paper
NM_000203.5
p.L365insFs
c.1093dupC
2 papers
NM_000203.5
p.T364K
c.1091C>A
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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."