Varaico: Literature-Extracted Genetic Variants

Gene:HAAO
Variant:p.E81_I82Splc

HAAO

84 papers

RefSeq Summary

3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral or...

Pfam Domains

3-HAOaa 1–149UCSC3-hydroxyanthranilic acid dioxygenase

Gene Aliases

HGNC Name

3-hydroxyanthranilate 3,4-dioxygenase

HGNC Alias Symbol

3-HAO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012205.3
p.E81_I82Splc
c.244-1G>C
Surrounding Variants
1 paper
NM_012205.3
p.L84H
c.251T>A
1 paper
NM_012205.3
p.V89M
c.265G>A
1 paper
NM_012205.3
p.P90S
c.268C>T
1 paper
NM_012205.3
p.V100M
c.298G>A
1 paper
NM_012205.3
p.G101W
c.301G>T
1 paper
NM_012205.3
p.V103L
c.307G>T
1 paper
NM_012205.3
p.V103L
c.307G>C
1 paper
NM_012205.3
p.E105*
c.313G>T
2 papers
NM_012205.3
p.R108Q
c.323G>A
1 paper
NM_012205.3
p.E81K
c.241G>A
1 paper
NM_012205.3
p.D74E
c.222T>A
1 paper
NM_012205.3
p.R73Q
c.218G>A
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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."