Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.S10*

CPOX

1,123 papers

RefSeq Summary

The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the ste...

Pfam Domains

Coprogen_oxidasaa 151–452UCSCCoproporphyrinogen III oxidase

Gene Aliases

HGNC Name

coproporphyrinogen oxidase

HGNC Alias Symbol

CPX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000097.7
p.S10*
c.29C>A
Surrounding Variants
1 paper
NM_000097.7
p.S10T
c.28T>A
1 paper
NM_000097.7
p.S10S
c.30G>A
2 papers
NM_000097.7
p.G11D
c.32G>A
1 paper
NM_000097.7
p.G11delFs
c.32delC
2 papers
NM_000097.7
p.S9C
c.25A>T
1 paper
NM_000097.7
p.L8L
c.24G>A
4 papers
NM_000097.7
p.P12S
c.34C>T
9 papers
NM_000097.7
p.P12A
c.34C>G
1 paper
NM_000097.7
p.S9_G11insFs
c.26_33dup8
1 paper
NM_000097.7
p.P12L
c.35C>T
5 papers
NM_000097.7
p.L8L
c.22C>T
1 paper
NM_000097.7
p.P12P
c.36C>G
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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."