Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.L39insFs

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.L39insFs
c.116_117insTA
Surrounding Variants
1 paper
NM_001752.4
p.L39I
c.115C>A
2 papers
NM_001752.4
p.L39V
c.115C>G
1 paper
NM_001752.4
p.L39L
c.117T>A
1 paper
NM_001752.4
p.N40H
c.118A>C
2 papers
NM_001752.4
p.N40D
c.118A>G
3 papers
NM_001752.4
p.K38R
c.113A>G
1 paper
NM_001752.4
p.N40S
c.119A>G
2 papers
NM_001752.4
p.N40I
c.119A>T
1 paper
NM_001752.4
p.K38I
c.113A>T
1 paper
NM_001752.4
p.K38E
c.112A>G
1 paper
NM_001752.4
p.K38_L39Fs
c.112_117delinsTGFs
1 paper
NM_001752.4
p.N40K
c.120T>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."