Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.R233H

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
53 papers
NM_000143.4
p.R233H
c.698G>A
Surrounding Variants
13 papers
NM_000143.4
p.R233L
c.698G>T
16 papers
NM_000143.4
p.R233C
c.697C>T
1 paper
NM_000143.4
p.R233G
c.697C>G
9 papers
NM_000143.4
p.T234A
c.700A>G
1 paper
NM_000143.4
p.G232G
c.696A>G
2 papers
NM_000143.4
p.T234P
c.700A>C
1 paper
NM_000143.4
p.G232fs
c.694_695fs
1 paper
NM_000143.4
p.T234_H235insT
c.700_704ins3
2 papers
NM_000143.4
p.G232delFs
c.695delC
1 paper
NM_000143.4
p.G232V
c.695G>T
1 paper
NM_000143.4
p.G232E
c.695G>A
2 papers
NM_000143.4
p.T234I
c.701C>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."