Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.P650P

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.P650P
c.1950G>T
Surrounding Variants
2 papers
NM_000203.5
p.P650L
c.1949C>T
1 paper
NM_000203.5
p.G651D
c.1952G>A
1 paper
NM_000203.5
p.P648L
c.1943C>T
5 papers
NM_000203.5
p.*654R
c.1960T>A
6 papers
NM_000203.5
p.*654R
c.1960T>C
8 papers
NM_000203.5
p.*654G
c.1960T>G
8 papers
NM_000203.5
p.*654C
c.1962A>C
1 paper
NM_000203.5
p.*654W
c.1962A>G
8 papers
NM_000203.5
p.*654C
c.1962A>T
1 paper
NM_000203.5
p.G646delFs
c.1938delG
1 paper
NM_000203.5
p.P642A
c.1924C>G
2 papers
NM_000203.5
p.E640fs
c.1918_1919fs
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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."