Varaico: Literature-Extracted Genetic Variants

Gene:CAT

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
1–12 of 1256 variants
22 papers
NM_001752.4
p.D389D
c.1167C>T
11 papers
NM_001752.4
p.D389A
c.1166A>C
10 papers
NM_001752.4
p.H63D
c.187C>G
9 papers
NM_001752.4
p.M1T
c.2T>C
9 papers
NM_001752.4
p.P7L
c.20C>T
9 papers
NM_001752.4
p.D90A
c.269A>C
9 papers
NM_001752.4
p.S167G
c.499A>G
8 papers
NM_001752.4
p.G80R
c.238G>A
8 papers
NM_001752.4
p.Q282*
c.844C>T
8 papers
NM_001752.4
p.N501Y
c.1501A>T
7 papers
NM_001752.4
p.A2T
c.4G>A
7 papers
NM_001752.4
p.A21T
c.61G>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."