Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.L387P

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.L387P
c.1160T>C
Surrounding Variants
1 paper
NM_000203.5
p.T388insFs
c.1162dupA
1 paper
NM_000203.5
p.T388fs
c.1162_1163fs
1 paper
NM_000203.5
p.T388S
c.1162A>T
1 paper
NM_000203.5
p.T388delFs
c.1163delC
1 paper
NM_000203.5
p.T388fs
c.1162_1163fs
4 papers
NM_000203.5
p.T388K
c.1163C>A
3 papers
NM_000203.5
p.A389_G391ins1
c.1166_1171dup6
12 papers
NM_000203.5
p.T388R
c.1163C>G
3 papers
NM_000203.5
p.T388T
c.1164G>C
1 paper
NM_000203.5
p.A389D
c.1166C>A
7 papers
NM_000203.5
p.P385R
c.1154C>G
3 papers
NM_000203.5
p.P385L
c.1154C>T
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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."