Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.G521insFs

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.G521insFs
c.1562_1563insC
Surrounding Variants
1 paper
NM_000203.5
p.G521delFs
c.1563delC
1 paper
NM_000203.5
p.G521S
c.1561G>A
1 paper
NM_000203.5
p.G522fs
c.1564_1565fs
1 paper
NM_000203.5
p.G522D
c.1565G>A
1 paper
NM_000203.5
p.A520insFs
c.1558_1559insC
1 paper
NM_000203.5
p.L526M
c.1576C>A
13 papers
NM_000203.5
p.L526P
c.1577T>C
1 paper
NM_000203.5
p.P528delFs
c.1582delC
2 papers
NM_000203.5
p.P515S
c.1543C>T
1 paper
NM_000203.5
p.P528A
c.1582C>G
1 paper
NM_000203.5
p.A514V
c.1541C>T
1 paper
NM_000203.5
p.A514delFs
c.1541delC
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