Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.D216V

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.D216V
c.647A>T
Surrounding Variants
1 paper
NM_000143.4
p.D216E
c.648T>G
1 paper
NM_000143.4
p.D216E
c.648T>A
1 paper
NM_000143.4
p.L214_H215del1
c.642_644delTGT
1 paper
NM_000143.4
p.A217T
c.649G>A
1 paper
NM_000143.4
p.H215R
c.644A>G
1 paper
NM_000143.4
p.G210_H215insFs
c.628_643dup16
1 paper
NM_000143.4
p.L214delFs
c.642delT
2 papers
NM_000143.4
p.L214delFs
c.641_642delTA
1 paper
NM_000143.4
p.L218F
c.652C>T
1 paper
NM_000143.4
p.L218R
c.653T>G
1 paper
NM_000143.4
p.L214*
c.641T>G
2 papers
NM_000143.4
p.L218P
c.653T>C
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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."