Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.A408delFs

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.A408delFs
c.1223delC
Surrounding Variants
1 paper
NM_000203.5
p.A408fs
c.1222_1223fs
1 paper
NM_000203.5
p.Q407insFs
c.1220_1221insG
1 paper
NM_000203.5
p.Q407R
c.1220A>G
3 papers
NM_000203.5
p.G409insFs
c.1225dupG
1 paper
NM_000203.5
p.Q407*
c.1219C>T
11 papers
NM_000203.5
p.G409R
c.1225G>A
12 papers
NM_000203.5
p.G409R
c.1225G>C
1 paper
NM_000203.5
p.G409G
c.1227G>A
2 papers
NM_000203.5
p.D413_A422del0
c.1238_1264del27
1 paper
NM_000203.5
p.V411insFs
c.1231dupG
4 papers
NM_000203.5
p.T410T
c.1230C>G
1 paper
NM_000203.5
p.V405G
c.1214T>G
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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."