Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.E256K

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.E256K
c.766G>A
Surrounding Variants
2 papers
NM_001752.4
p.E256Q
c.766G>C
2 papers
NM_001752.4
p.E256A
c.767A>C
1 paper
NM_001752.4
p.E256D
c.768A>C
2 papers
NM_001752.4
p.Q255R
c.764A>G
1 paper
NM_001752.4
p.E256D
c.768A>T
1 paper
NM_001752.4
p.D257H
c.769G>C
2 papers
NM_001752.4
p.D257A
c.770A>C
1 paper
NM_001752.4
p.D257G
c.770A>G
1 paper
NM_001752.4
p.S254S
c.762C>T
1 paper
NM_001752.4
p.S254T
c.760T>A
2 papers
NM_001752.4
p.S254P
c.760T>C
1 paper
NM_001752.4
p.L253P
c.758T>C
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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."