Varaico: Literature-Extracted Genetic Variants

Gene:HAAO
Variant:p.A258D

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.A258D
c.773C>A
Surrounding Variants
1 paper
NM_012205.3
p.R244W
c.730C>T
1 paper
NM_012205.3
p.V239M
c.715G>A
1 paper
NM_012205.3
p.S236S
c.708C>T
1 paper
NM_012205.3
p.G235insFs
c.704dupG
3 papers
NM_012205.3
p.G235R
c.703G>C
1 paper
NM_012205.3
p.S261L
c.782C>T
1 paper
NM_012205.3
p.T267T
c.801A>G
1 paper
NM_012205.3
p.W231*
c.693G>A
1 paper
NM_012205.3
p.G221S
c.661G>A
1 paper
NM_012205.3
p.G217V
c.650G>T
3 papers
NM_012205.3
p.Y214C
c.641A>G
1 paper
NM_012205.3
p.Y214H
c.640T>C
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