Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.Q282*

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
8 papers
NM_001752.4
p.Q282*
c.844C>T
Surrounding Variants
1 paper
NM_001752.4
p.V283I
c.847G>A
2 papers
NM_001752.4
p.V283A
c.848T>C
1 paper
NM_001752.4
p.V283G
c.848T>G
1 paper
NM_001752.4
p.Y280C
c.839A>G
2 papers
NM_001752.4
p.M284K
c.851T>A
1 paper
NM_001752.4
p.M284I
c.852G>A
2 papers
NM_001752.4
p.Y280insFs
c.838_839insT
1 paper
NM_001752.4
p.F279_Y280delFs
c.837_838delTT
1 paper
NM_001752.4
p.T278A
c.832A>G
1 paper
NM_001752.4
p.F286L
c.856T>C
1 paper
NM_001752.4
p.W277S
c.830G>C
1 paper
NM_001752.4
p.S276F
c.827C>T
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."