Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.G48A

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.G48A
c.143G>C
Surrounding Variants
2 papers
NM_001752.4
p.G48E
c.143G>A
2 papers
NM_001752.4
p.G48V
c.143G>T
1 paper
NM_001752.4
p.G48R
c.142G>A
1 paper
NM_001752.4
p.G48G
c.144G>C
1 paper
NM_001752.4
p.G48_P49del1
c.143_145delGGC
1 paper
NM_001752.4
p.P49fs
c.145_146fs
1 paper
NM_001752.4
p.G48insFs
c.144dupG
1 paper
NM_001752.4
p.P49L
c.146C>T
6 papers
NM_001752.4
p.R47H
c.140G>A
2 papers
NM_001752.4
p.R47L
c.140G>T
1 paper
NM_001752.4
p.R47S
c.139C>A
2 papers
NM_001752.4
p.P49P
c.147C>G
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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."