Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.G80R

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
8 papers
NM_001752.4
p.G80R
c.238G>A
Surrounding Variants
1 paper
NM_001752.4
p.G80insFs
c.238_239insG
2 papers
NM_001752.4
p.A79A
c.237A>G
2 papers
NM_001752.4
p.G80Splc
c.238+1G>A
1 paper
NM_001752.4
p.G80A
c.239G>C
3 papers
NM_001752.4
p.A79E
c.236C>A
2 papers
NM_001752.4
p.G80Splc
c.238+2T>A
2 papers
NM_001752.4
p.A79T
c.235G>A
2 papers
NM_001752.4
p.A79P
c.235G>C
1 paper
NM_001752.4
p.G78E
c.233G>A
1 paper
NM_001752.4
p.G78V
c.233G>T
1 paper
NM_001752.4
p.G78R
c.232G>A
1 paper
NM_001752.4
p.G80Splc
c.238+6T>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."