Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.K16_E17insFs

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
4 papers
NM_001752.4
p.K16_E17insFs
c.48_49insC
Surrounding Variants
1 paper
NM_001752.4
p.K16K
c.48G>A
2 papers
NM_001752.4
p.K16N
c.48G>C
1 paper
NM_001752.4
p.K16R
c.47A>G
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.K16insFs
c.46_47insT
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.K16E
c.46A>G
1 paper
NM_001752.4
p.E17G
c.50A>G
1 paper
NM_001752.4
p.W15*
c.45G>A
1 paper
NM_001752.4
p.E17E
c.51G>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."