Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.Y379F

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.Y379F
c.1136A>T
Surrounding Variants
1 paper
NM_001752.4
p.P378R
c.1133C>G
1 paper
NM_001752.4
p.P378L
c.1133C>T
1 paper
NM_001752.4
p.C377C
c.1131T>C
1 paper
NM_001752.4
p.P378_Y379del2
c.1132_1136del6
1 paper
NM_001752.4
p.A381D
c.1142C>A
1 paper
NM_001752.4
p.A381V
c.1142C>T
1 paper
NM_001752.4
p.C377S
c.1130G>C
1 paper
NM_001752.4
p.R382L
c.1145G>T
1 paper
NM_001752.4
p.N376D
c.1126A>G
1 paper
NM_001752.4
p.V375V
c.1125G>C
1 paper
NM_001752.4
p.V375M
c.1123G>A
1 paper
NM_001752.4
p.V375L
c.1123G>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."