Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.A327P

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
55 papers
NM_000203.5
p.A327P
c.979G>C
Surrounding Variants
1 paper
NM_000203.5
p.A327insFs
c.979_980ins4
1 paper
NM_000203.5
p.V325V
c.975C>A
1 paper
NM_000203.5
p.Q328H
c.984G>C
1 paper
NM_000203.5
p.Q328H
c.984G>T
1 paper
NM_000203.5
p.V325ins4
c.974_975ins12
1 paper
NM_000203.5
p.H329N
c.985C>A
1 paper
NM_000203.5
p.K324_V325Splc
c.973-1G>A
5 papers
NM_000203.5
p.K324_V325Splc
c.973-4G>A
1 paper
NM_000203.5
p.N331S
c.992A>G
1 paper
NM_000203.5
p.K324_V325Splc
c.973-7C>G
1 paper
NM_000203.5
p.L334insFs
c.1001dupT
1 paper
NM_000203.5
p.A335fs
c.1003_1004fs
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."