Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.E276K

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
12 papers
NM_000203.5
p.E276K
c.826G>A
Surrounding Variants
1 paper
NM_000203.5
p.E276_V278del0
c.826_834del9
2 papers
NM_000203.5
p.E276del1
c.826_828delGAG
5 papers
NM_000203.5
p.E274*
c.820G>T
1 paper
NM_000203.5
p.Q275del1
c.823_824delCAG
1 paper
NM_000203.5
p.V278A
c.833T>C
4 papers
NM_000203.5
p.L273L
c.817C>T
1 paper
NM_000203.5
p.V279I
c.835G>A
1 paper
NM_000203.5
p.L273delFs
c.817_818delCT
1 paper
NM_000203.5
p.V279A
c.836T>C
1 paper
NM_000203.5
p.I272T
c.815T>C
1 paper
NM_000203.5
p.I272_L273insFs
c.816_817dupCC
1 paper
NM_000203.5
p.I272L
c.814A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."