Varaico: Literature-Extracted Genetic Variants

Gene:FH

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
1–12 of 2971 variants
54 papers
NM_000143.4
p.K477_N478ins0
c.1431_1433dupAAA
53 papers
NM_000143.4
p.R233H
c.698G>A
33 papers
NM_000143.4
p.G397R
c.1189G>A
29 papers
NM_000143.4
p.G397R
c.1189G>C
23 papers
NM_000143.4
p.Q376P
c.1127A>C
20 papers
NM_000143.4
p.R343*
c.1027C>T
19 papers
NM_000143.4
p.R101*
c.301C>T
18 papers
NM_000143.4
p.P174R
c.521C>G
17 papers
NM_000143.4
p.H318Y
c.952C>T
16 papers
NM_000143.4
p.R233C
c.697C>T
16 papers
NM_000143.4
p.G354R
c.1060G>A
15 papers
NM_000143.4
p.G354R
c.1060G>C
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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."