Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T193I

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.T193I
c.578C>T
Surrounding Variants
1 paper
NM_000143.4
p.T193S
c.577A>T
8 papers
NM_000143.4
p.A194T
c.580G>A
1 paper
NM_000143.4
p.P192P
c.576C>G
1 paper
NM_000143.4
p.P192fs
c.574_575fs
1 paper
NM_000143.4
p.P192P
c.576C>A
3 papers
NM_000143.4
p.P192L
c.575C>T
1 paper
NM_000143.4
p.A194E
c.581C>A
5 papers
NM_000143.4
p.P192S
c.574C>T
1 paper
NM_000143.4
p.A194fs
c.580_581fs
1 paper
NM_000143.4
p.F191F
c.573T>C
1 paper
NM_000143.4
p.M195L
c.583A>T
13 papers
NM_000143.4
p.M195V
c.583A>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."