Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L242R

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.L242R
c.725T>G
Surrounding Variants
1 paper
NM_000143.4
p.L242P
c.725T>C
1 paper
NM_000143.4
p.L242F
c.724C>T
1 paper
NM_000143.4
p.P241fs
c.721_722fs
1 paper
NM_000143.4
p.P241L
c.722C>T
2 papers
NM_000143.4
p.T243fs
c.727_728fs
1 paper
NM_000143.4
p.P241S
c.721C>T
1 paper
NM_000143.4
p.P241A
c.721C>G
1 paper
NM_000143.4
p.V240fs
c.718_719fs
1 paper
NM_000143.4
p.V240V
c.720T>C
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.T243_L244delFs
c.727_730del4
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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."