Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.H63R

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.H63R
c.188A>G
Surrounding Variants
1 paper
NM_001752.4
p.H63L
c.188A>T
2 papers
NM_001752.4
p.H63N
c.187C>A
10 papers
NM_001752.4
p.H63D
c.187C>G
1 paper
NM_001752.4
p.H63Q
c.189T>A
1 paper
NM_001752.4
p.H63Q
c.189T>G
1 paper
NM_001752.4
p.F64_E71del8
c.190_212del24
2 papers
NM_001752.4
p.A62A
c.186T>A
1 paper
NM_001752.4
p.F64I
c.190T>A
3 papers
NM_001752.4
p.F64L
c.190T>C
1 paper
NM_001752.4
p.A62D
c.185C>A
1 paper
NM_001752.4
p.A62G
c.185C>G
2 papers
NM_001752.4
p.A62V
c.185C>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."