Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.E508_D509Splc

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.E508_D509Splc
c.1524+1G>C
Surrounding Variants
2 papers
NM_000203.5
p.E508_D509Splc
c.1524+1G>A
3 papers
NM_000203.5
p.E508_D509Splc
c.1524+1G>T
1 paper
NM_000203.5
p.E508_D509Splc
c.1524+2T>A
1 paper
NM_000203.5
p.E508K
c.1522G>A
1 paper
NM_000203.5
p.A506V
c.1517C>T
1 paper
NM_000203.5
p.R505R
c.1515C>G
1 paper
NM_000203.5
p.R505R
c.1515C>T
1 paper
NM_000203.5
p.R505L
c.1514G>T
5 papers
NM_000203.5
p.R505G
c.1513C>G
1 paper
NM_000203.5
p.R505C
c.1513C>T
7 papers
NM_000203.5
p.M504T
c.1511T>C
4 papers
NM_000203.5
p.M504R
c.1511T>G
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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."