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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDUA

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 1068 variants

286 papers

chr4:1002747 G>A

NM_000203.5

p.W402*

c.1205G>A

Glyco_hydro_39

Exome: 0.1% (AC=1750, hom=0)Genome: 0.1% (AC=130, hom=0)16 overlapping SVs

282 papers

chr4:1002748 G>A

NM_000203.5

p.W402*

c.1206G>A

Glyco_hydro_39

exact variant not in gnomAD16 overlapping SVs

223 papers

chr4:987858 C>T

NM_000203.5

p.Q70*

c.208C>T

Glyco_hydro_39

Exome: 0.0% (AC=703, hom=0)Genome: 0.1% (AC=88, hom=0)12 overlapping SVs

135 papers

chr4:1003418 C>G

NM_000203.5

p.P533R

c.1598C>G

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=4, hom=0)13 overlapping SVs

71 papers

chr4:987916 G>A

NM_000203.5

p.R89Q

c.266G>A

Glyco_hydro_39

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

55 papers

chr4:1002275 G>C

NM_000203.5

p.A327P

c.979G>C

Glyco_hydro_39

Exome: 0.0% (AC=209, hom=0)Genome: 0.0% (AC=11, hom=0)13 overlapping SVs

41 papers

chr4:1003102 T>C

NM_000203.5

p.L490P

c.1469T>C

Glyco_hydro_39

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

38 papers

chr4:1004313 C>T

NM_000203.5

p.R628*

c.1882C>T

Glyco_hydro_39_C

Exome: 0.0% (AC=9, hom=0)Genome: n/a14 overlapping SVs

37 papers

chr4:1000626 G>A

NM_000203.5

p.R105Q

c.314G>A

Glyco_hydro_39

Exome: 15.4% (AC=225302, hom=18412)Genome: 14.2% (AC=21578, hom=1595)12 overlapping SVs

37 papers

chr4:1002377 G>A

NM_000203.5

p.A361T

c.1081G>A

Glyco_hydro_39

Exome: 16.1% (AC=234399, hom=20394)Genome: 17.2% (AC=26114, hom=2341)14 overlapping SVs

36 papers

chr4:987915 C>T

NM_000203.5

p.R89W

c.265C>T

Glyco_hydro_39

Exome: 0.0% (AC=15, hom=0)Genome: n/a12 overlapping SVs

34 papers

chr4:1004292 C>T

NM_000203.5

p.R621*

c.1861C>T

Glyco_hydro_39_C

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

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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."