Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.S399C

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.S399C
c.1195A>T
Surrounding Variants
3 papers
NM_000143.4
p.S399G
c.1195A>G
2 papers
NM_000143.4
p.S399R
c.1195A>C
1 paper
NM_000143.4
p.S399I
c.1196G>T
1 paper
NM_000143.4
p.S399T
c.1196G>C
2 papers
NM_000143.4
p.S399N
c.1196G>A
1 paper
NM_000143.4
p.G398G
c.1194C>A
1 paper
NM_000143.4
p.G398delFs
c.1193delC
1 paper
NM_000143.4
p.G398V
c.1193G>T
1 paper
NM_000143.4
p.G398A
c.1193G>C
3 papers
NM_000143.4
p.G398D
c.1193G>A
1 paper
NM_000143.4
p.S399R
c.1197C>G
1 paper
NM_000143.4
p.S399R
c.1197C>A
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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."