Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.F279_Y280delFs

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.F279_Y280delFs
c.837_838delTT
Surrounding Variants
2 papers
NM_001752.4
p.Y280insFs
c.838_839insT
1 paper
NM_001752.4
p.T278A
c.832A>G
1 paper
NM_001752.4
p.W277S
c.830G>C
1 paper
NM_001752.4
p.Y280C
c.839A>G
1 paper
NM_001752.4
p.S276F
c.827C>T
1 paper
NM_001752.4
p.S276_W277delFs
c.828_831del4
1 paper
NM_001752.4
p.S276T
c.826T>A
1 paper
NM_001752.4
p.S276P
c.826T>C
1 paper
NM_001752.4
p.P275P
c.825C>T
1 paper
NM_001752.4
p.P275H
c.824C>A
1 paper
NM_001752.4
p.P275L
c.824C>T
2 papers
NM_001752.4
p.P275S
c.823C>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."