Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.I228N

FH

1,008 papers

RefSeq Summary

The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic f...

Pfam Domains

Lyase_1aa 58–389UCSCLyase
FumaraseC_Caa 455–508UCSCFumarase C C-terminus

Gene Aliases

HGNC Name

fumarate hydratase

HGNC Alias Name

fumarase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000143.4
p.I228N
c.683T>A
Surrounding Variants
1 paper
NM_000143.4
p.I228I
c.684C>T
1 paper
NM_000143.4
p.Q227H
c.681G>T
1 paper
NM_000143.4
p.Q227H
c.681G>C
1 paper
NM_000143.4
p.I229V
c.685A>G
3 papers
NM_000143.4
p.I229T
c.686T>C
4 papers
NM_000143.4
p.Q227*
c.679C>T
1 paper
NM_000143.4
p.I229M
c.687C>G
1 paper
NM_000143.4
p.I229I
c.687C>A
1 paper
NM_000143.4
p.A226delFs
c.678delT
1 paper
NM_000143.4
p.A226A
c.678A>T
7 papers
NM_000143.4
p.K230E
c.688A>G
1 paper
NM_000143.4
p.A226A
c.678A>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."