Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.P55_L56insFs

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.P55_L56insFs
c.165_166insC
Surrounding Variants
1 paper
NM_000203.5
p.L56delFs
c.166delC
2 papers
NM_000203.5
p.P55Q
c.164C>A
1 paper
NM_000203.5
p.L56fs
c.166_167fs
1 paper
NM_000203.5
p.L56Q
c.167T>A
1 paper
NM_000203.5
p.P54S
c.160C>T
3 papers
NM_000203.5
p.C53*
c.159C>A
1 paper
NM_000203.5
p.S59delFs
c.175delA
8 papers
NM_000203.5
p.Q60*
c.178C>T
2 papers
NM_000203.5
p.Q60P
c.179A>C
1 paper
NM_000203.5
p.C53Splc
c.159-9T>A
1 paper
NM_000203.5
p.A61delFs
c.182delC
1 paper
NM_000203.5
p.A61V
c.182C>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."