Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.R233C

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
16 papers
NM_000143.4
p.R233C
c.697C>T
Surrounding Variants
1 paper
NM_000143.4
p.R233G
c.697C>G
13 papers
NM_000143.4
p.R233L
c.698G>T
53 papers
NM_000143.4
p.R233H
c.698G>A
1 paper
NM_000143.4
p.G232G
c.696A>G
1 paper
NM_000143.4
p.G232fs
c.694_695fs
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
1 paper
NM_000143.4
p.G232*
c.694G>T
1 paper
NM_000143.4
p.G232R
c.694G>C
1 paper
NM_000143.4
p.G232R
c.694G>A
1 paper
NM_000143.4
p.K223_I231del0
c.667_693del27
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."