Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.K243I

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.K243I
c.728A>T
Surrounding Variants
1 paper
NM_001752.4
p.K243R
c.728A>G
1 paper
NM_001752.4
p.K243_N244insA
c.727_731ins3
1 paper
NM_001752.4
p.N244insFs
c.730_731insT
1 paper
NM_001752.4
p.I242I
c.726C>A
1 paper
NM_001752.4
p.I242T
c.725T>C
1 paper
NM_001752.4
p.I242_K243insAT
c.724_728ins6
1 paper
NM_001752.4
p.L245delFs
c.733_734delCT
2 papers
NM_001752.4
p.L245F
c.733C>T
1 paper
NM_001752.4
p.L245delFs
c.734delT
1 paper
NM_001752.4
p.G241delFs
c.723delC
1 paper
NM_001752.4
p.L245P
c.734T>C
1 paper
NM_001752.4
p.L245R
c.734T>G
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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."