Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.Q22H

CAT

3,201 papers

RefSeq Summary

This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase c...

Pfam Domains

Catalaseaa 28–411UCSCCatalase
Catalase-relaa 434–497UCSCCatalase-related immune-responsive

Gene Aliases

HGNC Name

catalase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001752.4
p.Q22H
c.66G>C
Surrounding Variants
1 paper
NM_001752.4
p.Q22Q
c.66G>A
1 paper
NM_001752.4
p.Q22H
c.66G>T
1 paper
NM_001752.4
p.Q22insFs
c.65_66insAT
2 papers
NM_001752.4
p.Q22R
c.65A>G
1 paper
NM_001752.4
p.Q22L
c.65A>T
4 papers
NM_001752.4
p.Q22_K23Splc
c.66+1G>A
2 papers
NM_001752.4
p.Q22_K23Splc
c.66+1G>T
1 paper
NM_001752.4
p.Q22K
c.64C>A
1 paper
NM_001752.4
p.Q22_K23Splc
c.66+3A>T
7 papers
NM_001752.4
p.A21T
c.61G>A
1 paper
NM_001752.4
p.A21P
c.61G>C
1 paper
NM_001752.4
p.A21S
c.61G>T
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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."