Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.P631delFs

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
2 papers
NM_000203.5
p.P631delFs
c.1893delC
Surrounding Variants
1 paper
NM_000203.5
p.G630D
c.1889G>A
1 paper
NM_000203.5
p.G630R
c.1888G>C
1 paper
NM_000203.5
p.F632fs
c.1894_1895fs
9 papers
NM_000203.5
p.R628P
c.1883G>C
2 papers
NM_000203.5
p.R628G
c.1882C>G
38 papers
NM_000203.5
p.R628*
c.1882C>T
6 papers
NM_000203.5
p.S633*
c.1898C>A
4 papers
NM_000203.5
p.S633W
c.1898C>G
21 papers
NM_000203.5
p.S633L
c.1898C>T
9 papers
NM_000203.5
p.W626*
c.1878G>A
9 papers
NM_000203.5
p.W626*
c.1877G>A
8 papers
NM_000203.5
p.W626R
c.1876T>A
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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."