Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.P179L

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.P179L
c.536C>T
Surrounding Variants
1 paper
NM_001752.4
p.P179S
c.535C>T
2 papers
NM_001752.4
p.D180N
c.538G>A
1 paper
NM_001752.4
p.D180H
c.538G>C
1 paper
NM_001752.4
p.D180Y
c.538G>T
3 papers
NM_001752.4
p.D180A
c.539A>C
1 paper
NM_001752.4
p.D180G
c.539A>G
2 papers
NM_001752.4
p.D180V
c.539A>T
1 paper
NM_001752.4
p.D178V
c.533A>T
1 paper
NM_001752.4
p.D180E
c.540C>A
1 paper
NM_001752.4
p.D180_M181insFs
c.540_541insA
1 paper
NM_001752.4
p.D180E
c.540C>G
1 paper
NM_001752.4
p.D180D
c.540C>T
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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."