Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.L308_P309delFs

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.L308_P309delFs
c.923_926del4
Surrounding Variants
1 paper
NM_000203.5
p.L308_P311delFs
c.923_932del10
1 paper
NM_000203.5
p.L308fs
c.922_923fs
1 paper
NM_000203.5
p.W306*
c.918G>A
1 paper
NM_000203.5
p.W306*
c.917G>A
3 papers
NM_000203.5
p.W306L
c.917G>T
4 papers
NM_000203.5
p.L308P
c.923T>C
1 paper
NM_000203.5
p.W306G
c.916T>G
1 paper
NM_000203.5
p.P309T
c.925C>A
7 papers
NM_000203.5
p.Q310*
c.928C>T
2 papers
NM_000203.5
p.V304fs
c.910_911fs
8 papers
NM_000203.5
p.V304delFs
c.911delT
6 papers
NM_000203.5
p.V304fs
c.910_911fs
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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."