Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.G16G

FECH

362 papers

RefSeq Summary

The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this...

Pfam Domains

Ferrochelataseaa 1–317UCSCFerrochelatase

Gene Aliases

HGNC Name

ferrochelatase

HGNC Previous Name

ferrochelatase (protoporphyria)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000140.5
p.G16G
c.48C>T
Surrounding Variants
1 paper
NM_000140.5
p.V17V
c.51C>T
5 papers
NM_000140.5
p.L18delFs
c.53delA
1 paper
NM_000140.5
p.A14A
c.42C>A
17 papers
NM_000140.5
p.A14delFs
c.40delC
1 paper
NM_000140.5
p.R13insFs
c.39dupC
2 papers
NM_000140.5
p.A14P
c.40G>C
1 paper
NM_000140.5
p.A14fs
c.40_41fs
1 paper
NM_000140.5
p.R13fs
c.37_38fs
1 paper
NM_000140.5
p.R13P
c.38G>C
2 papers
NM_000140.5
p.A11_L12insFs
c.32_35dup4
1 paper
NM_000140.5
p.L12P
c.35T>C
1 paper
NM_000140.5
p.L12L
c.34C>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."