Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.S347R

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
2 papers
NM_000203.5
p.S347R
c.1039A>C
Surrounding Variants
1 paper
NM_000203.5
p.S347insFs
c.1039_1040insC
1 paper
NM_000203.5
p.S347_N348delFs
c.1041_1042delCA
2 papers
NM_000203.5
p.S347R
c.1041C>A
2 papers
NM_000203.5
p.S347R
c.1041C>G
1 paper
NM_000203.5
p.L346P
c.1037T>C
31 papers
NM_000203.5
p.L346R
c.1037T>G
6 papers
NM_000203.5
p.D349del1
c.1045_1047delGAC
10 papers
NM_000203.5
p.N348K
c.1044C>A
10 papers
NM_000203.5
p.N348K
c.1044C>G
1 paper
NM_000203.5
p.L345F
c.1033C>T
11 papers
NM_000203.5
p.D349N
c.1045G>A
14 papers
NM_000203.5
p.D349Y
c.1045G>T
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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."