Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.L381fs

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.L381fs
c.1141_1142fs
Surrounding Variants
1 paper
NM_000203.5
p.L381V
c.1141C>G
1 paper
NM_000203.5
p.L381delFs
c.1143delG
26 papers
NM_000203.5
p.Q380R
c.1139A>G
1 paper
NM_000203.5
p.Q380insFs
c.1139dupA
1 paper
NM_000203.5
p.Q380insFs
c.1138_1139ins5
6 papers
NM_000203.5
p.Q380*
c.1138C>T
1 paper
NM_000203.5
p.R383delFs
c.1147delC
1 paper
NM_000203.5
p.V379G
c.1136T>G
1 paper
NM_000203.5
p.R383G
c.1147C>G
1 paper
NM_000203.5
p.R383fs
c.1147_1148fs
1 paper
NM_000203.5
p.V379M
c.1135G>A
24 papers
NM_000203.5
p.R383H
c.1148G>A
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."