Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T243_L244delFs

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.T243_L244delFs
c.727_730del4
Surrounding Variants
2 papers
NM_000143.4
p.L244R
c.731T>G
2 papers
NM_000143.4
p.L244P
c.731T>C
1 paper
NM_000143.4
p.L244L
c.732T>C
1 paper
NM_000143.4
p.T243_L244delFs
c.728_731del4
2 papers
NM_000143.4
p.T243fs
c.727_728fs
2 papers
NM_000143.4
p.G245R
c.733G>C
2 papers
NM_000143.4
p.G245R
c.733G>A
2 papers
NM_000143.4
p.L244delFs
c.732delA
1 paper
NM_000143.4
p.G245fs
c.733_734fs
1 paper
NM_000143.4
p.G245G
c.735G>A
3 papers
NM_000143.4
p.Q246*
c.736C>T
1 paper
NM_000143.4
p.G245delFs
c.734_735delCC
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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."