Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R383fs

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.R383fs
c.1147_1148fs
Surrounding Variants
1 paper
NM_000203.5
p.R383G
c.1147C>G
24 papers
NM_000203.5
p.R383H
c.1148G>A
1 paper
NM_000203.5
p.R383delFs
c.1147delC
1 paper
NM_000203.5
p.K384E
c.1150A>G
1 paper
NM_000203.5
p.K384R
c.1151A>G
2 papers
NM_000203.5
p.K384N
c.1152G>C
2 papers
NM_000203.5
p.K384N
c.1152G>T
1 paper
NM_000203.5
p.L381delFs
c.1143delG
1 paper
NM_000203.5
p.L381V
c.1141C>G
1 paper
NM_000203.5
p.P385S
c.1153C>T
1 paper
NM_000203.5
p.L381fs
c.1141_1142fs
7 papers
NM_000203.5
p.P385R
c.1154C>G
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