Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.W402*

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
286 papers
NM_000203.5
p.W402*
c.1205G>A
Surrounding Variants
282 papers
NM_000203.5
p.W402*
c.1206G>A
1 paper
NM_000203.5
p.A403A
c.1209C>A
10 papers
NM_000203.5
p.E404*
c.1210G>T
9 papers
NM_000203.5
p.Q400*
c.1198C>T
1 paper
NM_000203.5
p.V405G
c.1214T>G
1 paper
NM_000203.5
p.Q407*
c.1219C>T
3 papers
NM_000203.5
p.E398del1
c.1192_1193delGAG
1 paper
NM_000203.5
p.E398_A403del6
c.1192_1208del18
1 paper
NM_000203.5
p.Q407insFs
c.1220_1221insG
1 paper
NM_000203.5
p.Q407R
c.1220A>G
7 papers
NM_000203.5
p.D397Splc
c.1190-1G>A
3 papers
NM_000203.5
p.D397Splc
c.1190-1G>C
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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."