Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.S246A

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.S246A
c.736T>G
Surrounding Variants
1 paper
NM_001752.4
p.S246F
c.737C>T
1 paper
NM_001752.4
p.S246S
c.738T>A
1 paper
NM_001752.4
p.L245P
c.734T>C
1 paper
NM_001752.4
p.L245R
c.734T>G
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.V247L
c.739G>C
1 paper
NM_001752.4
p.L245delFs
c.733_734delCT
1 paper
NM_001752.4
p.V247A
c.740T>C
1 paper
NM_001752.4
p.V247G
c.740T>G
1 paper
NM_001752.4
p.N244insFs
c.730_731insT
1 paper
NM_001752.4
p.E248K
c.742G>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."