Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.H166_K169del0

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.H166_K169del0
c.498_506del9
Surrounding Variants
1 paper
NM_001752.4
p.H166Y
c.496C>T
1 paper
NM_001752.4
p.H166Q
c.498C>A
1 paper
NM_001752.4
p.H166Q
c.498C>G
9 papers
NM_001752.4
p.S167G
c.499A>G
1 paper
NM_001752.4
p.F164L
c.490T>C
2 papers
NM_001752.4
p.S163S
c.489T>C
1 paper
NM_001752.4
p.K169E
c.505A>G
1 paper
NM_001752.4
p.S163T
c.487T>A
1 paper
NM_001752.4
p.S163A
c.487T>G
2 papers
NM_001752.4
p.P162P
c.486A>T
2 papers
NM_001752.4
p.K169N
c.507G>T
1 paper
NM_001752.4
p.P162S
c.484C>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."