Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.S366I

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
2 papers
NM_000143.4
p.S366I
c.1097G>T
Surrounding Variants
1 paper
NM_000143.4
p.S366T
c.1097G>C
8 papers
NM_000143.4
p.S366N
c.1097G>A
1 paper
NM_000143.4
p.S366R
c.1098T>G
1 paper
NM_000143.4
p.S366R
c.1098T>A
1 paper
NM_000143.4
p.S366C
c.1096A>T
1 paper
NM_000143.4
p.S366G
c.1096A>G
1 paper
NM_000143.4
p.S366R
c.1096A>C
1 paper
NM_000143.4
p.S365S
c.1095C>T
1 paper
NM_000143.4
p.S365R
c.1095C>G
1 paper
NM_000143.4
p.S365R
c.1095C>A
1 paper
NM_000143.4
p.I367F
c.1099A>T
1 paper
NM_000143.4
p.I367V
c.1099A>G
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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."