Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.E17E

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.E17E
c.51G>A
Surrounding Variants
1 paper
NM_001752.4
p.E17D
c.51G>C
1 paper
NM_001752.4
p.Q18insFs
c.52_53ins8
2 papers
NM_001752.4
p.E17D
c.51G>T
1 paper
NM_001752.4
p.E17insFs
c.50_51insT
1 paper
NM_001752.4
p.E17A
c.50A>C
1 paper
NM_001752.4
p.E17G
c.50A>G
1 paper
NM_001752.4
p.Q18E
c.52C>G
2 papers
NM_001752.4
p.Q18*
c.52C>T
6 papers
NM_001752.4
p.Q18L
c.53A>T
2 papers
NM_001752.4
p.E17K
c.49G>A
2 papers
NM_001752.4
p.E17Q
c.49G>C
1 paper
NM_001752.4
p.K16K
c.48G>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."