Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.A20insFs

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.A20insFs
c.59dupC
Surrounding Variants
1 paper
NM_001752.4
p.A20delFs
c.60delC
1 paper
NM_001752.4
p.R19R
c.57G>A
1 paper
NM_001752.4
p.A20A
c.60C>A
1 paper
NM_001752.4
p.A20A
c.60C>T
1 paper
NM_001752.4
p.R19W
c.55C>T
7 papers
NM_001752.4
p.A21T
c.61G>A
1 paper
NM_001752.4
p.A21P
c.61G>C
1 paper
NM_001752.4
p.A21S
c.61G>T
1 paper
NM_001752.4
p.Q18Q
c.54G>A
1 paper
NM_001752.4
p.Q18_R19insFs
c.54_55insA
6 papers
NM_001752.4
p.Q18L
c.53A>T
1 paper
NM_001752.4
p.Q22K
c.64C>A
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."