Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.R365H

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.R365H
c.1094G>A
Surrounding Variants
1 paper
NM_001752.4
p.R365L
c.1094G>T
1 paper
NM_001752.4
p.R365R
c.1095C>A
2 papers
NM_001752.4
p.R365C
c.1093C>T
1 paper
NM_001752.4
p.H364Q
c.1092T>G
1 paper
NM_001752.4
p.L366Q
c.1097T>A
1 paper
NM_001752.4
p.L366delFs
c.1098delG
1 paper
NM_001752.4
p.R363R
c.1089C>A
1 paper
NM_001752.4
p.G367R
c.1099G>A
1 paper
NM_001752.4
p.G367R
c.1099G>C
1 paper
NM_001752.4
p.G367E
c.1100G>A
1 paper
NM_001752.4
p.R363L
c.1088G>T
1 paper
NM_001752.4
p.R363_P368del0
c.1089_1103del15
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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."