Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.V116I

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.V116I
c.346G>A
Surrounding Variants
1 paper
NM_001752.4
p.V116_A117insTA
c.346_350ins6
3 papers
NM_001752.4
p.V116A
c.347T>C
1 paper
NM_001752.4
p.T115I
c.344C>T
2 papers
NM_001752.4
p.T115A
c.343A>G
1 paper
NM_001752.4
p.T115S
c.343A>T
1 paper
NM_001752.4
p.T115_V116delFs
c.344_347del4
1 paper
NM_001752.4
p.A117T
c.349G>A
1 paper
NM_001752.4
p.A117V
c.350C>T
3 papers
NM_001752.4
p.A117Splc
c.349+1G>A
1 paper
NM_001752.4
p.S114F
c.341C>T
2 papers
NM_001752.4
p.A117Splc
c.349+2T>C
1 paper
NM_001752.4
p.S114T
c.340T>A
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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."