Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.A270G

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.A270G
c.809C>G
Surrounding Variants
1 paper
NM_001752.4
p.A270D
c.809C>A
1 paper
NM_001752.4
p.A270A
c.810C>A
1 paper
NM_001752.4
p.I269L
c.805A>C
1 paper
NM_001752.4
p.G272*
c.814G>T
1 paper
NM_001752.4
p.A268G
c.803C>G
1 paper
NM_001752.4
p.A268V
c.803C>T
2 papers
NM_001752.4
p.G272V
c.815G>T
1 paper
NM_001752.4
p.K273insFs
c.818_819insAT
1 paper
NM_001752.4
p.K273R
c.818A>G
1 paper
NM_001752.4
p.N267fs
c.799_800fs
1 paper
NM_001752.4
p.N267D
c.799A>G
1 paper
NM_001752.4
p.K273K
c.819G>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."