Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.L188Q

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.L188Q
c.563T>A
Surrounding Variants
1 paper
NM_001752.4
p.R189insFs
c.565_566insAT
1 paper
NM_001752.4
p.R189fs
c.565_566fs
1 paper
NM_001752.4
p.R189G
c.565C>G
2 papers
NM_001752.4
p.R189C
c.565C>T
1 paper
NM_001752.4
p.S187S
c.561C>T
1 paper
NM_001752.4
p.S187I
c.560G>T
2 papers
NM_001752.4
p.S187C
c.559A>T
2 papers
NM_001752.4
p.R189R
c.567T>G
1 paper
NM_001752.4
p.P190L
c.569C>T
1 paper
NM_001752.4
p.E191K
c.571G>A
1 paper
NM_001752.4
p.E191Q
c.571G>C
1 paper
NM_001752.4
p.E191A
c.572A>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."