Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.P108L

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
3 papers
NM_001752.4
p.P108L
c.323C>T
Surrounding Variants
1 paper
NM_001752.4
p.P108P
c.324C>A
1 paper
NM_001752.4
p.P108insFs
c.322_323insGT
1 paper
NM_001752.4
p.P108S
c.322C>T
1 paper
NM_001752.4
p.I109delFs
c.325delA
3 papers
NM_001752.4
p.I109I
c.327C>A
4 papers
NM_001752.4
p.I109I
c.327C>T
1 paper
NM_001752.4
p.K106K
c.318G>A
1 paper
NM_001752.4
p.K106R
c.317A>G
1 paper
NM_001752.4
p.K106M
c.317A>T
5 papers
NM_001752.4
p.A110V
c.329C>T
1 paper
NM_001752.4
p.K106_T107insC
c.316_320ins3
3 papers
NM_001752.4
p.K105K
c.315G>A
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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."