Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.F100L

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.F100L
c.300T>A
Surrounding Variants
1 paper
NM_001752.4
p.F100L
c.300T>G
1 paper
NM_001752.4
p.E101K
c.301G>A
1 paper
NM_001752.4
p.E101A
c.302A>C
1 paper
NM_001752.4
p.E101G
c.302A>G
1 paper
NM_001752.4
p.F100L
c.298T>C
1 paper
NM_001752.4
p.F100V
c.298T>G
1 paper
NM_001752.4
p.E101E
c.303G>A
1 paper
NM_001752.4
p.E101_H102insFs
c.303_304insT
1 paper
NM_001752.4
p.H102Y
c.304C>T
1 paper
NM_001752.4
p.V99A
c.296T>C
1 paper
NM_001752.4
p.H102R
c.305A>G
1 paper
NM_001752.4
p.H102L
c.305A>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."