Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.V56delFs

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
5 papers
NM_001752.4
p.V56delFs
c.167delT
Surrounding Variants
1 paper
NM_001752.4
p.V56I
c.166G>A
1 paper
NM_001752.4
p.V56insFs
c.167_168insC
1 paper
NM_001752.4
p.V56_A62del0
c.168_185del18
1 paper
NM_001752.4
p.V56V
c.168T>A
2 papers
NM_001752.4
p.V55A
c.164T>C
2 papers
NM_001752.4
p.V55M
c.163G>A
1 paper
NM_001752.4
p.V55delFs
c.164delT
2 papers
NM_001752.4
p.F57V
c.169T>G
1 paper
NM_001752.4
p.D54E
c.162T>A
2 papers
NM_001752.4
p.D54V
c.161A>T
3 papers
NM_001752.4
p.T58A
c.172A>G
2 papers
NM_001752.4
p.T58S
c.172A>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."