Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N373I

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
1 paper
NM_000143.4
p.N373I
c.1118A>T
Surrounding Variants
11 papers
NM_000143.4
p.N373S
c.1118A>G
1 paper
NM_000143.4
p.N373T
c.1118A>C
1 paper
NM_000143.4
p.N373N
c.1119C>T
2 papers
NM_000143.4
p.N373K
c.1119C>G
2 papers
NM_000143.4
p.N373K
c.1119C>A
1 paper
NM_000143.4
p.N373Y
c.1117A>T
3 papers
NM_000143.4
p.N373D
c.1117A>G
1 paper
NM_000143.4
p.N373H
c.1117A>C
2 papers
NM_000143.4
p.P374S
c.1120C>T
1 paper
NM_000143.4
p.P374A
c.1120C>G
1 paper
NM_000143.4
p.P374T
c.1120C>A
1 paper
NM_000143.4
p.N373del1
c.1117_1118delGTT
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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."