Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.E67G

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.E67G
c.200A>G
Surrounding Variants
1 paper
NM_001752.4
p.E67ins1
c.200_201insCAT
1 paper
NM_001752.4
p.E67V
c.200A>T
1 paper
NM_001752.4
p.E67K
c.199G>A
1 paper
NM_001752.4
p.E67E
c.201G>A
1 paper
NM_001752.4
p.R68insFs
c.202_203insT
1 paper
NM_001752.4
p.R66R
c.198A>G
2 papers
NM_001752.4
p.R66Q
c.197G>A
2 papers
NM_001752.4
p.R68K
c.203G>A
1 paper
NM_001752.4
p.R68insFs
c.203_204insC
1 paper
NM_001752.4
p.R68_I69delFs
c.204_205delAA
1 paper
NM_001752.4
p.R68_R72delFs
c.204_214del11
6 papers
NM_001752.4
p.R68S
c.204A>C
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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."