Varaico: Literature-Extracted Genetic Variants

Gene:HAAO
Variant:p.T42S

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
6 papers
NM_012205.3
p.T42S
c.125C>G
Surrounding Variants
6 papers
NM_012205.3
p.T42S
c.124A>T
4 papers
NM_012205.3
p.R43K
c.128G>A
1 paper
NM_012205.3
p.D45G
c.134A>G
2 papers
NM_012205.3
p.H47Q
c.141C>G
2 papers
NM_012205.3
p.H47Q
c.141C>A
6 papers
NM_012205.3
p.I37V
c.109A>G
1 paper
NM_012205.3
p.L32H
c.95T>A
1 paper
NM_012205.3
p.E53D
c.159G>C
1 paper
NM_012205.3
p.M27Splc
c.80+36C>T
1 paper
NM_012205.3
p.G16_Q19del0
c.48_56del9
1 paper
NM_012205.3
p.R15L
c.44G>T
1 paper
NM_012205.3
p.R15delFs
c.43delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."