Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.D445N

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.D445N
c.1333G>A
Surrounding Variants
1 paper
NM_000203.5
p.D445D
c.1335C>T
1 paper
NM_000203.5
p.S443R
c.1329C>A
1 paper
NM_000203.5
p.S443R
c.1329C>G
1 paper
NM_000203.5
p.S443N
c.1328G>A
4 papers
NM_000203.5
p.D445del1
c.1333_1334delGAC
1 paper
NM_000203.5
p.S443R
c.1327A>C
2 papers
NM_000203.5
p.R447C
c.1339C>T
1 paper
NM_000203.5
p.A442V
c.1325C>T
1 paper
NM_000203.5
p.Y441*
c.1323C>A
1 paper
NM_000203.5
p.Y441*
c.1323C>G
11 papers
NM_000203.5
p.H449N
c.1345C>A
1 paper
NM_000203.5
p.H449D
c.1345C>G
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