Varaico: Literature-Extracted Genetic Variants

Gene:HAAO
Variant:p.H190N

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.H190N
c.568C>A
Surrounding Variants
1 paper
NM_012205.3
p.E193fs
c.577_578fs
7 papers
NM_012205.3
p.W186*
c.558G>A
5 papers
NM_012205.3
p.W186*
c.557G>A
1 paper
NM_012205.3
p.E193_G197delFs
c.578_590del13
1 paper
NM_012205.3
p.L200F
c.598C>T
1 paper
NM_012205.3
p.P171S
c.511C>T
1 paper
NM_012205.3
p.Q163delFs
c.489delC
1 paper
NM_012205.3
p.D162Splc
c.485-2A>G
1 paper
NM_012205.3
p.D162Splc
c.484+106G>A
4 papers
NM_012205.3
p.P161insFs
c.483dupT
1 paper
NM_012205.3
p.I145S
c.434T>G
1 paper
NM_012205.3
p.G138S
c.412G>A
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