Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.N350I

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
8 papers
NM_000203.5
p.N350I
c.1049A>T
Surrounding Variants
5 papers
NM_000203.5
p.N350S
c.1049A>G
1 paper
NM_000203.5
p.N350D
c.1048A>G
3 papers
NM_000203.5
p.N350fs
c.1048_1049fs
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.D349E
c.1047C>A
1 paper
NM_000203.5
p.D349E
c.1047C>G
1 paper
NM_000203.5
p.N350delFs
c.1049delA
1 paper
NM_000203.5
p.A351T
c.1051G>A
2 papers
NM_000203.5
p.D349insFs
c.1047dupC
3 papers
NM_000203.5
p.D349G
c.1046A>G
2 papers
NM_000203.5
p.A351V
c.1052C>T
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