Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.L120V

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.L120V
c.358C>G
Surrounding Variants
1 paper
NM_000203.5
p.L120F
c.358C>T
1 paper
NM_000203.5
p.D119E
c.357C>A
1 paper
NM_000203.5
p.D119E
c.357C>G
1 paper
NM_000203.5
p.L120P
c.359T>C
2 papers
NM_000203.5
p.D119A
c.356A>C
1 paper
NM_000203.5
p.L121F
c.361C>T
7 papers
NM_000203.5
p.D119Y
c.355G>T
2 papers
NM_000203.5
p.L121P
c.362T>C
6 papers
NM_000203.5
p.L118L
c.352C>T
1 paper
NM_000203.5
p.E123K
c.367G>A
4 papers
NM_000203.5
p.Y117delFs
c.349delT
1 paper
NM_000203.5
p.G116A
c.347G>C
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."