Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.V52I

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.V52I
c.154G>A
Surrounding Variants
2 papers
NM_001752.4
p.V52D
c.155T>A
1 paper
NM_001752.4
p.L51L
c.153T>G
5 papers
NM_001752.4
p.L51P
c.152T>C
1 paper
NM_001752.4
p.V52_Q53insFs
c.156_157insC
1 paper
NM_001752.4
p.Q53K
c.157C>A
2 papers
NM_001752.4
p.L51F
c.151C>T
1 paper
NM_001752.4
p.L51delFs
c.153delT
1 paper
NM_001752.4
p.Q53P
c.158A>C
1 paper
NM_001752.4
p.Q53L
c.158A>T
2 papers
NM_001752.4
p.L50L
c.150T>A
1 paper
NM_001752.4
p.Q53Q
c.159G>A
1 paper
NM_001752.4
p.Q53H
c.159G>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."