Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.C481R

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.C481R
c.1441T>C
Surrounding Variants
1 paper
NM_000203.5
p.L480fs
c.1438_1439fs
1 paper
NM_000203.5
p.D484_V494del0
c.1451_1480del30
1 paper
NM_000203.5
p.P483T
c.1447C>A
1 paper
NM_000203.5
p.G479delFs
c.1437delG
1 paper
NM_000203.5
p.D484_V494delFs
c.1450_1480del31
1 paper
NM_000203.5
p.D477G
c.1430A>G
1 paper
NM_000203.5
p.G485D
c.1454G>A
3 papers
NM_000203.5
p.L476P
c.1427T>C
4 papers
NM_000203.5
p.E486*
c.1456G>T
1 paper
NM_000203.5
p.W487R
c.1459T>A
2 papers
NM_000203.5
p.W487R
c.1459T>C
1 paper
NM_000203.5
p.Y475delFs
c.1424delA
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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."