Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.Y475delFs

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.Y475delFs
c.1424delA
Surrounding Variants
1 paper
NM_000203.5
p.Y475fs
c.1423_1424fs
1 paper
NM_000203.5
p.L476_D477del2
c.1426_1430del6
1 paper
NM_000203.5
p.R474H
c.1421G>A
2 papers
NM_000203.5
p.R474_Y475insFs
c.1422_1423dupCT
1 paper
NM_000203.5
p.R474_Y475del1
c.1421_1423delGCT
3 papers
NM_000203.5
p.L476P
c.1427T>C
1 paper
NM_000203.5
p.T473R
c.1418C>G
1 paper
NM_000203.5
p.D477G
c.1430A>G
1 paper
NM_000203.5
p.Y471*
c.1413C>A
1 paper
NM_000203.5
p.Y471*
c.1413C>G
1 paper
NM_000203.5
p.G479delFs
c.1437delG
1 paper
NM_000203.5
p.L480fs
c.1438_1439fs
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."