Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.E484D

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.E484D
c.1452G>T
Surrounding Variants
1 paper
NM_001752.4
p.E484E
c.1452G>A
1 paper
NM_001752.4
p.E484D
c.1452G>C
2 papers
NM_001752.4
p.E484A
c.1451A>C
1 paper
NM_001752.4
p.V485F
c.1453G>T
3 papers
NM_001752.4
p.E484K
c.1450G>A
2 papers
NM_001752.4
p.E484Q
c.1450G>C
1 paper
NM_001752.4
p.H486delFs
c.1456_1457delCA
1 paper
NM_001752.4
p.H486P
c.1457A>C
1 paper
NM_001752.4
p.H486_P487insFs
c.1458_1459insT
1 paper
NM_001752.4
p.P487S
c.1459C>T
1 paper
NM_001752.4
p.P487L
c.1460C>T
1 paper
NM_001752.4
p.F482L
c.1444T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."