Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R621P

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.R621P
c.1862G>C
Surrounding Variants
3 papers
NM_000203.5
p.R621L
c.1862G>T
3 papers
NM_000203.5
p.R621G
c.1861C>G
34 papers
NM_000203.5
p.R621*
c.1861C>T
1 paper
NM_000203.5
p.A622V
c.1865C>T
8 papers
NM_000203.5
p.V620F
c.1858G>T
1 paper
NM_000203.5
p.R619P
c.1856G>C
5 papers
NM_000203.5
p.L623P
c.1868T>C
18 papers
NM_000203.5
p.R619G
c.1855C>G
19 papers
NM_000203.5
p.R619*
c.1855C>T
2 papers
NM_000203.5
p.Y618*
c.1854C>A
2 papers
NM_000203.5
p.Y618*
c.1854C>G
3 papers
NM_000203.5
p.D624V
c.1871A>T
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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."