Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.T374T

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.T374T
c.1122C>T
Surrounding Variants
4 papers
NM_000203.5
p.T374N
c.1121C>A
1 paper
NM_000203.5
p.T374P
c.1120A>C
4 papers
NM_000203.5
p.N372S
c.1115A>G
1 paper
NM_000203.5
p.P377S
c.1129C>T
3 papers
NM_000203.5
p.P377L
c.1130C>T
1 paper
NM_000203.5
p.V371V
c.1113C>A
1 paper
NM_000203.5
p.H378_K384insFs
c.1134_1152dup19
1 paper
NM_000203.5
p.V379M
c.1135G>A
2 papers
NM_000203.5
p.Q370*
c.1108C>T
1 paper
NM_000203.5
p.V379G
c.1136T>G
1 paper
NM_000203.5
p.Q380insFs
c.1139dupA
1 paper
NM_000203.5
p.Q380insFs
c.1138_1139ins5
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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."