Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.V74M

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
2 papers
NM_001752.4
p.V74M
c.220G>A
Surrounding Variants
2 papers
NM_001752.4
p.V74L
c.220G>C
2 papers
NM_001752.4
p.V74L
c.220G>T
2 papers
NM_001752.4
p.V74A
c.221T>C
1 paper
NM_001752.4
p.V74delFs
c.220delG
1 paper
NM_001752.4
p.V73I
c.217G>A
1 paper
NM_001752.4
p.H75R
c.224A>G
1 paper
NM_001752.4
p.H75L
c.224A>T
1 paper
NM_001752.4
p.R72K
c.215G>A
2 papers
NM_001752.4
p.R72T
c.215G>C
2 papers
NM_001752.4
p.R72I
c.215G>T
2 papers
NM_001752.4
p.A76T
c.226G>A
2 papers
NM_001752.4
p.A76V
c.227C>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."