Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.D178N

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
2 papers
NM_001752.4
p.D178N
c.532G>A
Surrounding Variants
1 paper
NM_001752.4
p.D178delFs
c.533delA
1 paper
NM_001752.4
p.D178V
c.533A>T
1 paper
NM_001752.4
p.K177K
c.531G>A
1 paper
NM_001752.4
p.K177N
c.531G>C
2 papers
NM_001752.4
p.K177R
c.530A>G
1 paper
NM_001752.4
p.P179S
c.535C>T
1 paper
NM_001752.4
p.P179L
c.536C>T
1 paper
NM_001752.4
p.L176Q
c.527T>A
3 papers
NM_001752.4
p.L176M
c.526C>A
2 papers
NM_001752.4
p.D180N
c.538G>A
1 paper
NM_001752.4
p.D180H
c.538G>C
1 paper
NM_001752.4
p.D180Y
c.538G>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."