Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.M12K

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.M12K
c.35T>A
Surrounding Variants
1 paper
NM_001752.4
p.M12I
c.36G>A
1 paper
NM_001752.4
p.M12I
c.36G>T
1 paper
NM_001752.4
p.Q13K
c.37C>A
3 papers
NM_001752.4
p.Q13*
c.37C>T
1 paper
NM_001752.4
p.Q11Q
c.33G>A
1 paper
NM_001752.4
p.Q13insFs
c.38_39insAT
1 paper
NM_001752.4
p.Q11R
c.32A>G
2 papers
NM_001752.4
p.Q11K
c.31C>A
1 paper
NM_001752.4
p.Q11*
c.31C>T
1 paper
NM_001752.4
p.Q13Q
c.39G>A
1 paper
NM_001752.4
p.Q13H
c.39G>C
1 paper
NM_001752.4
p.Q13_H14insFs
c.39_40insAT
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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."