Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.L396P

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
7 papers
NM_000203.5
p.L396P
c.1187T>C
Surrounding Variants
2 papers
NM_000203.5
p.L396R
c.1187T>G
1 paper
NM_000203.5
p.D397Splc
c.1189+4A>G
2 papers
NM_000203.5
p.D397Splc
c.1189+4A>T
1 paper
NM_000203.5
p.L396del1
c.1186_1188delCTG
3 papers
NM_000203.5
p.D397Splc
c.1189+5G>A
2 papers
NM_000203.5
p.D397Splc
c.1189+5G>T
1 paper
NM_000203.5
p.L392P
c.1175T>C
1 paper
NM_000203.5
p.L392L
c.1174C>T
1 paper
NM_000203.5
p.A394_D397ins1
c.1181_1189dup9
1 paper
NM_000203.5
p.M390T
c.1169T>C
1 paper
NM_000203.5
p.A389D
c.1166C>A
3 papers
NM_000203.5
p.T388T
c.1164G>C
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."