Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.L51P

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
5 papers
NM_001752.4
p.L51P
c.152T>C
Surrounding Variants
2 papers
NM_001752.4
p.L51F
c.151C>T
1 paper
NM_001752.4
p.L51delFs
c.153delT
1 paper
NM_001752.4
p.L51L
c.153T>G
1 paper
NM_001752.4
p.V52I
c.154G>A
2 papers
NM_001752.4
p.L50L
c.150T>A
2 papers
NM_001752.4
p.V52D
c.155T>A
1 paper
NM_001752.4
p.L50H
c.149T>A
4 papers
NM_001752.4
p.L50P
c.149T>C
1 paper
NM_001752.4
p.L50F
c.148C>T
1 paper
NM_001752.4
p.V52_Q53insFs
c.156_157insC
1 paper
NM_001752.4
p.Q53K
c.157C>A
2 papers
NM_001752.4
p.P49P
c.147C>G
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."