Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.V304fs

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.V304fs
c.910_911fs
Surrounding Variants
8 papers
NM_000203.5
p.V304delFs
c.911delT
6 papers
NM_000203.5
p.V304fs
c.910_911fs
1 paper
NM_000203.5
p.V304_S307del0
c.911_919del9
4 papers
NM_000203.5
p.L303P
c.908T>C
1 paper
NM_000203.5
p.P302T
c.904C>A
1 paper
NM_000203.5
p.P302A
c.904C>G
1 paper
NM_000203.5
p.P302S
c.904C>T
1 paper
NM_000203.5
p.W306G
c.916T>G
6 papers
NM_000203.5
p.D301E
c.903C>A
6 papers
NM_000203.5
p.D301E
c.903C>G
1 paper
NM_000203.5
p.W306*
c.917G>A
3 papers
NM_000203.5
p.W306L
c.917G>T
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."