Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.H492R

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.H492R
c.1475A>G
Surrounding Variants
1 paper
NM_001752.4
p.H492Y
c.1474C>T
2 papers
NM_001752.4
p.S491R
c.1473C>G
1 paper
NM_001752.4
p.Q494*
c.1480C>T
1 paper
NM_001752.4
p.D488A
c.1463A>C
1 paper
NM_001752.4
p.L496P
c.1487T>C
1 paper
NM_001752.4
p.P487L
c.1460C>T
1 paper
NM_001752.4
p.L497Q
c.1490T>A
2 papers
NM_001752.4
p.D498_K506del9
c.1492_1517del27
1 paper
NM_001752.4
p.P487S
c.1459C>T
1 paper
NM_001752.4
p.H486_P487insFs
c.1458_1459insT
1 paper
NM_001752.4
p.H486P
c.1457A>C
3 papers
NM_001752.4
p.D498D
c.1494C>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."