Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.G399Splc

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.G399Splc
c.1195+1G>C
Surrounding Variants
2 papers
NM_001752.4
p.G399Splc
c.1195+1G>A
1 paper
NM_001752.4
p.Q398_G399insFs
c.1194_1195insAT
1 paper
NM_001752.4
p.G399delFs
c.1195delG
1 paper
NM_001752.4
p.Q398E
c.1192C>G
1 paper
NM_001752.4
p.Q398*
c.1192C>T
1 paper
NM_001752.4
p.G399Splc
c.1195+8T>C
2 papers
NM_001752.4
p.D396G
c.1187A>G
2 papers
NM_001752.4
p.D396N
c.1186G>A
1 paper
NM_001752.4
p.Q395L
c.1184A>T
1 paper
NM_001752.4
p.M394V
c.1180A>G
1 paper
NM_001752.4
p.M394insFs
c.1180dupA
1 paper
NM_001752.4
p.M392_M394ins1
c.1175_1180dup6
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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."