Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.Y84F

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.Y84F
c.251A>T
Surrounding Variants
1 paper
NM_001752.4
p.Y84S
c.251A>C
2 papers
NM_001752.4
p.Y84C
c.251A>G
2 papers
NM_001752.4
p.Y84*
c.252C>A
1 paper
NM_001752.4
p.Y84*
c.252C>G
1 paper
NM_001752.4
p.Y84Y
c.252C>T
2 papers
NM_001752.4
p.Y84N
c.250T>A
3 papers
NM_001752.4
p.G83A
c.248G>C
1 paper
NM_001752.4
p.G83V
c.248G>T
2 papers
NM_001752.4
p.F85Y
c.254T>A
1 paper
NM_001752.4
p.E86_D90del0
c.257_268del12
1 paper
NM_001752.4
p.G83S
c.247G>A
1 paper
NM_001752.4
p.G83C
c.247G>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."