Varaico: Literature-Extracted Genetic Variants

Gene:HGD

HGD

136 papers

RefSeq Summary

This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosom...

Pfam Domains

HgmA_Naa 5–279UCSCHomogentisate 1,2-dioxygenase N-terminal
HgmA_Caa 280–434UCSCHomogentisate 1,2-dioxygenase C-terminal

Gene Aliases

HGNC Name

homogentisate 1,2-dioxygenase

HGNC Previous Symbol

AKU

Papers
RefSeq ID
Protein change
DNA change
1–12 of 488 variants
37 papers
NM_000187.4
p.G161R
c.481G>A
35 papers
NM_000187.4
p.G161R
c.481G>C
32 papers
NM_000187.4
p.M368V
c.1102A>G
30 papers
NM_000187.4
p.P230S
c.688C>T
27 papers
NM_000187.4
p.V300G
c.899T>G
25 papers
NM_000187.4
p.G270R
c.808G>A
24 papers
NM_000187.4
p.G270R
c.808G>C
19 papers
NM_000187.4
p.A122V
c.365C>T
16 papers
NM_000187.4
p.G360R
c.1078G>C
15 papers
NM_000187.4
p.R225H
c.674G>A
15 papers
NM_000187.4
p.G360R
c.1078G>A
14 papers
NM_000187.4
p.G152fs
c.454_455fs
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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."