Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.A266T

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.A266T
c.796G>A
Surrounding Variants
1 paper
NM_000203.5
p.A266E
c.797C>A
1 paper
NM_000203.5
p.A266_I270del5
c.796_809del15
5 papers
NM_000203.5
p.G265D
c.794G>A
16 papers
NM_000203.5
p.G265R
c.793G>C
1 paper
NM_000203.5
p.K264_G265Splc
c.793-1G>A
1 paper
NM_000203.5
p.S271_I272ins0
c.811_816dup6
2 papers
NM_000203.5
p.K264_G265Splc
c.793-5C>A
1 paper
NM_000203.5
p.G265_Q275del0
c.793_825del33
2 papers
NM_000203.5
p.S269_V278delFs
c.805_832del28
2 papers
NM_000203.5
p.K264_G265Splc
c.793-6C>G
4 papers
NM_000203.5
p.S269C
c.806C>G
1 paper
NM_000203.5
p.K264_G265Splc
c.793-9C>A
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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."