Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.G104E

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
2 papers
NM_001752.4
p.G104E
c.311G>A
Surrounding Variants
1 paper
NM_001752.4
p.K105_T107del3
c.313_320del9
1 paper
NM_001752.4
p.G104R
c.310G>A
1 paper
NM_001752.4
p.K105E
c.313A>G
1 paper
NM_001752.4
p.K105*
c.313A>T
1 paper
NM_001752.4
p.I103I
c.309T>A
2 papers
NM_001752.4
p.K105R
c.314A>G
1 paper
NM_001752.4
p.K105M
c.314A>T
1 paper
NM_001752.4
p.I103T
c.308T>C
1 paper
NM_001752.4
p.I103_G104insFs
c.309_310insT
3 papers
NM_001752.4
p.K105K
c.315G>A
1 paper
NM_001752.4
p.K106_T107insC
c.316_320ins3
1 paper
NM_001752.4
p.H102R
c.305A>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."